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Gene: JAK1 (Janus kinase 1) Homo sapiens

Analyze

Symbol:

JAK1

Name:

Janus kinase 1

RGD ID:

69102

HGNC Page

HGNC:6190

Description:

Enables non-membrane spanning protein tyrosine kinase activity; protein phosphatase binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cell surface receptor signaling pathway via JAK-STAT; cytokine-mediated signaling pathway; and positive regulation of sprouting angiogenesis. Acts upstream of or within response to antibiotic. Located in cytoplasm and nucleus. Is active in cytoplasmic side of plasma membrane. Is extrinsic component of cytoplasmic side of plasma membrane. Implicated in T-cell acute lymphoblastic leukemia; carcinoma (multiple); gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Biomarker of pancreatic ductal adenocarcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AIIDE; JAK-1; JAK1A; JAK1B; Janus kinase 1 (a protein tyrosine kinase); JTK3; tyrosine-protein kinase JAK1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Jak1 (Janus kinase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Jak1 (Janus kinase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Jak1 (Janus kinase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	JAK1 (Janus kinase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	JAK1 (Janus kinase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Jak1 (Janus kinase 1)	NCBI	Ortholog
Sus scrofa (pig):	JAK1 (Janus kinase 1)	HGNC	Ensembl, NCBI, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	JAK1 (Janus kinase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Jak1 (Janus kinase 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Jak2 (Janus kinase 2)	HGNC	OrthoMCL
Mus musculus (house mouse):	Jak3 (Janus kinase 3)	HGNC	OrthoMCL
Mus musculus (house mouse):	Tyk2 (tyrosine kinase 2)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Jak1 (Janus kinase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Jak1 (Janus kinase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	jak1 (Janus kinase 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	hop	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	jak1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	jak1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	jak1.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment.

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	64,833,229 - 65,067,746 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	64,833,223 - 65,067,754 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	65,298,912 - 65,533,429 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	65,071,494 - 65,204,775 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	65,012,228 - 65,064,007	NCBI
Celera	1	63,589,792 - 63,723,086 (-)	NCBI		Celera
Cytogenetic Map	1	p31.3	NCBI
HuRef	1	63,407,815 - 63,541,120 (-)	NCBI		HuRef
CHM1_1	1	65,415,253 - 65,548,498 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	64,711,228 - 64,945,755 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acute Experimental Pancreatitis (ISO)

Autoinflammation, Immune Dysregulation, and Eosinophilia (IAGP)

Chronic Hepatitis B (IAGP)

colorectal cancer (IAGP)

congenital disorder of glycosylation It (IAGP)

endometrial cancer (IAGP)

Experimental Arthritis (ISO)

genetic disease (IAGP)

hepatocellular carcinoma (IAGP)

Hypoxia (ISO)

intellectual disability (IAGP)

liver cirrhosis (ISO)

lung non-small cell carcinoma (IDA)

lupus nephritis (EXP)

myeloid leukemia associated with Down Syndrome (IAGP)

ovarian cancer (IMP)

pancreatic adenocarcinoma (IDA)

pancreatic ductal adenocarcinoma (IEP)

periodontitis (ISO)

prostate cancer (IAGP)

Prostatic Neoplasms (EXP)

sciatic neuropathy (ISO)

stomach cancer (IAGP)

systemic lupus erythematosus (ISS)

T-cell acute lymphoblastic leukemia (IAGP)

transient cerebral ischemia (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,6-dinitrotoluene (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-chloropropane-1,2-diol (ISO)

3-phenylprop-2-enal (ISO)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (EXP)

4-vinylcyclohexene dioxide (ISO)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ISO)

6-propyl-2-thiouracil (ISO)

6alpha-methylprednisolone (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

aluminium hydroxide (ISO)

amantadine (EXP)

amiodarone (ISO)

ammonium chloride (ISO)

aristolochic acid A (EXP)

aristolochic acids (EXP)

arsane (EXP,ISO)

arsenic atom (EXP,ISO)

arsenite(3-) (EXP)

arsenous acid (EXP)

baricitinib (EXP)

Benoxacor (ISO)

benzbromarone (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

bortezomib (EXP)

buspirone (ISO)

cadmium dichloride (EXP)

calcitriol (EXP)

capillarisin (EXP)

capsaicin (EXP)

carbon nanotube (EXP)

chlorpyrifos (ISO)

Cirsimarin (ISO)

cisplatin (ISO)

citalopram (ISO)

clobetasol (ISO)

clofibrate (ISO)

clozapine (EXP)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

copper(II) sulfate (EXP)

cyanidin cation (ISO)

cyclosporin A (EXP)

cyhalothrin (ISO)

DDT (EXP)

deoxynivalenol (ISO)

diarsenic trioxide (EXP)

Dibutyl phosphate (EXP)

dieckol (EXP)

dioxygen (ISO)

divanadium pentaoxide (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

emodin (EXP)

escitalopram (ISO)

ethanol (ISO)

ethylparaben (EXP)

Fidarestat (EXP)

filipin III (EXP)

gentamycin (ISO)

hesperetin (ISO)

hexadecanoic acid (EXP)

hydrogen peroxide (EXP)

inulin (ISO)

isotretinoin (EXP)

L-ethionine (ISO)

lead diacetate (ISO)

lead(0) (ISO)

lipopolysaccharide (EXP,ISO)

loliolide (EXP)

luteolin (ISO)

lycopene (EXP)

menadione (ISO)

mercury dichloride (EXP)

methoxychlor (ISO)

methyl beta-cyclodextrin (EXP)

methylmercury chloride (EXP)

methylphenidate (ISO)

methylseleninic acid (EXP)

mevalonic acid (ISO)

microcystin-LR (ISO)

mitomycin C (EXP)

myricetin (EXP,ISO)

N-acetyl-L-cysteine (EXP)

N-ethyl-N-nitrosourea (ISO)

N-nitrosodiethylamine (ISO)

nimesulide (ISO)

nitric oxide (ISO)

Nonylphenol (ISO)

notoginsenoside R1 (ISO)

oleic acid (EXP)

omeprazole (ISO)

oridonin (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phenethyl isothiocyanate (ISO)

phenobarbital (ISO)

phenylmercury acetate (EXP)

phorbol 13-acetate 12-myristate (EXP)

pipoxolan (ISO)

pirinixic acid (ISO)

ponatinib (EXP)

potassium dichromate (EXP)

propiconazole (ISO)

Punicalagin (EXP)

quercetin (EXP,ISO)

quercetin 3-O-beta-D-glucofuranoside (EXP)

quercetin 3-O-beta-D-glucopyranoside (EXP)

resveratrol (EXP,ISO)

rotenone (EXP)

rutin (ISO)

ruxolitinib (EXP)

S-butyl-DL-homocysteine (S,R)-sulfoximine (ISO)

Salinomycin (EXP)

SB 431542 (EXP)

simvastatin (ISO)

sodium arsenite (EXP,ISO)

sunitinib (EXP,ISO)

T-2 toxin (ISO)

tamibarotene (EXP)

tamoxifen (ISO)

temozolomide (EXP)

testosterone (ISO)

testosterone enanthate (ISO)

tetrachloromethane (ISO)

tetracycline (ISO)

thapsigargin (ISO)

theophylline (EXP)

thioacetamide (ISO)

thiram (EXP)

tofacitinib (EXP)

torcetrapib (EXP)

trichostatin A (EXP)

trimethyltin (ISO)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

verteporfin (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IBA)

cell surface receptor signaling pathway via JAK-STAT (IBA,IDA,IMP,NAS,TAS)

cellular response to interleukin-3 (ISO)

cellular response to interleukin-7 (ISO)

cellular response to virus (NAS)

cytokine-mediated signaling pathway (IBA,IEA,ISO,TAS)

enzyme-linked receptor protein signaling pathway (ISO)

growth hormone receptor signaling pathway via JAK-STAT (IBA)

interleukin-10-mediated signaling pathway (IDA)

interleukin-11-mediated signaling pathway (IDA)

interleukin-15-mediated signaling pathway (IDA)

interleukin-2-mediated signaling pathway (IDA,TAS)

interleukin-4-mediated signaling pathway (IDA,NAS)

interleukin-6-mediated signaling pathway (IDA,TAS)

interleukin-7-mediated signaling pathway (IC)

interleukin-9-mediated signaling pathway (IDA)

intracellular signal transduction (IBA,IEA,ISO,TAS)

peptidyl-tyrosine phosphorylation (ISO)

positive regulation of homotypic cell-cell adhesion (IMP)

positive regulation of protein localization to nucleus (IDA)

positive regulation of receptor signaling pathway via STAT (ISO)

positive regulation of sprouting angiogenesis (IGI)

protein localization to cell-cell junction (IMP)

protein phosphorylation (IMP,TAS)

regulation of cell adhesion (IEA)

regulation of multicellular organismal process (IEA)

response to antibiotic (IDA)

T-helper 17 cell lineage commitment (TAS)

type I interferon-mediated signaling pathway (IDA,NAS,TAS)

type II interferon-mediated signaling pathway (IDA,NAS,TAS)

type III interferon-mediated signaling pathway (NAS)

tyrosine phosphorylation of STAT protein (ISO)

Cellular Component

cytoplasm (IC,IDA)

cytoplasmic side of plasma membrane (IDA)

cytoskeleton (IEA)

cytosol (IBA,TAS)

endomembrane system (IEA)

endosome (TAS)

extrinsic component of cytoplasmic side of plasma membrane (IC,IDA)

focal adhesion (HDA)

membrane (IEA)

nucleus (IDA)

plasma membrane (IC,TAS)

receptor complex (IPI)

Molecular Function

ATP binding (IEA)

CCR5 chemokine receptor binding (IEA,ISO)

growth hormone receptor binding (IBA,IEA,ISO,ISS)

metal ion binding (IEA)

non-membrane spanning protein tyrosine kinase activity (IBA,IDA,IEA,TAS)

protein binding (IPI)

protein phosphatase binding (IPI)

protein tyrosine kinase activity (EXP,IC,IDA,IEA,TAS)

ubiquitin protein ligase binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

ceramide signaling pathway (IEA)

hepatitis C pathway (IEA)

Interleukin-10 signaling pathway (TAS)

interleukin-2 signaling pathway (EXP)

interleukin-27 signaling pathway (EXP)

interleukin-4 signaling pathway (EXP)

interleukin-6 signaling pathway (EXP,TAS)

Jak-Stat signaling pathway (IEA,TAS)

Leishmaniasis pathway (IEA)

measles pathway (IEA)

Non-Stat, Jak dependent pathway (TAS)

pancreatic cancer pathway (IEA)

platelet-derived growth factor signaling pathway (EXP)

toxoplasmosis pathway (IEA)

tuberculosis pathway (IEA)

type II interferon signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Acute myeloid leukemia (IAGP)

Asthma (IAGP)

Atopic dermatitis (IAGP)

Autosomal dominant inheritance (IAGP)

Colonic eosinophilia (IAGP)

Eosinophilia (IAGP)

Eosinophilic liver infiltration (IAGP)

Failure to thrive (IAGP)

Food allergy (IAGP)

Hepatic cysts (IAGP)

Hepatic necrosis (IAGP)

Hepatosplenomegaly (IAGP)

Hypothyroidism (IAGP)

Intellectual disability, severe (IAGP)

Membranous nephropathy (IAGP)

Nephrotic syndrome (IAGP)

Recurrent viral infections (IAGP)

Short stature (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion.	Albacker LA, etal., PLoS One. 2017 Nov 9;12(11):e0176181. doi: 10.1371/journal.pone.0176181. eCollection 2017.
2.	JAK1 gene polymorphisms are associated with the outcomes of hepatitis B virus infection, but not with α interferon therapy response in a Han Chinese population.	Chen K, etal., Genet Test Mol Biomarkers. 2012 Oct;16(10):1206-10. doi: 10.1089/gtmb.2012.0141. Epub 2012 Aug 17.
3.	Combination of gemcitabine and erlotinib inhibits recurrent pancreatic cancer growth in mice via the JAK-STAT pathway.	Chen L, etal., Oncol Rep. 2018 Mar;39(3):1081-1089. doi: 10.3892/or.2018.6198. Epub 2018 Jan 8.
4.	The antagonist of the JAK-1/STAT-1 signaling pathway improves the severity of cerulein-stimulated pancreatic injury via inhibition of NF-κB activity.	Chen P, etal., Int J Mol Med. 2011 May;27(5):731-8. doi: 10.3892/ijmm.2011.632. Epub 2011 Mar 1.
5.	Development of selective inhibitors for the treatment of rheumatoid arthritis: (R)-3-(3-(Methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino)pyrrolidin-1-yl)-3-oxopropanenitrile as a JAK1-selective inhibitor.	Chough C, etal., Bioorg Med Chem. 2018 May 1;26(8):1495-1510. doi: 10.1016/j.bmc.2018.01.021. Epub 2018 Feb 3.
6.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
7.	Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers.	Jeong EG, etal., Clin Cancer Res. 2008 Jun 15;14(12):3716-21. doi: 10.1158/1078-0432.CCR-07-4839.
8.	Therapeutic strategies for the clinical blockade of IL-6/gp130 signaling.	Jones SA, etal., J Clin Invest. 2011 Sep 1;121(9):3375-83. doi: 10.1172/JCI57158. Epub 2011 Sep 1.
9.	Activation of the JAK/STAT pathway following transient focal cerebral ischemia: signaling through Jak1 and Stat3 in astrocytes.	Justicia C, etal., Glia. 2000 May;30(3):253-70. doi: 10.1002/(sici)1098-1136(200005)30:3<253::aid-glia5>3.0.co;2-o.
10.	Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma.	Kan Z, etal., Genome Res. 2013 Sep;23(9):1422-33. doi: 10.1101/gr.154492.113. Epub 2013 Jun 20.
11.	Signaling through the JAK/STAT pathway, recent advances and future challenges.	Kisseleva T, etal., Gene 2002 Feb 20;285(1-2):1-24.
12.	Mangiferin ameliorates Porphyromonas gingivalis-induced experimental periodontitis by inhibiting phosphorylation of nuclear factor-κB and Janus kinase 1-signal transducer and activator of transcription signaling pathways.	Li H, etal., J Periodontal Res. 2017 Feb;52(1):1-7. doi: 10.1111/jre.12360. Epub 2016 Jan 30.
13.	Corilagin ameliorates schistosomiasis hepatic fibrosis through regulating IL-13 associated signal pathway in vitro and in vivo.	Li HR, etal., Parasitology. 2016 Oct;143(12):1629-38. doi: 10.1017/S0031182016001128. Epub 2016 Jul 21.
14.	Activation of Janus kinase 1 confers poor prognosis in patients with non-small cell lung cancer.	Liu D, etal., Oncol Lett. 2017 Oct;14(4):3959-3966. doi: 10.3892/ol.2017.6690. Epub 2017 Aug 1.
15.	Interferon-related genetic markers of necroinflammatory activity in chronic hepatitis C.	López-Rodríguez R, etal., PLoS One. 2017 Jul 12;12(7):e0180927. doi: 10.1371/journal.pone.0180927. eCollection 2017.
16.	The JAK-STAT signaling pathway: input and output integration.	Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9.
17.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
18.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
21.	Biology of interleukin-10.	Sabat R, etal., Cytokine Growth Factor Rev. 2010 Oct;21(5):331-44. doi: 10.1016/j.cytogfr.2010.09.002. Epub 2010 Nov 5.
22.	Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.	Sveen A, etal., Genome Med. 2017 May 24;9(1):46. doi: 10.1186/s13073-017-0434-0.
23.	Jak family of kinases in cancer.	Verma A, etal., Cancer Metastasis Rev 2003 Dec;22(4):423-34.
24.	[Changes of interleukin-6 and Janus kinases in rats with hypoxic pulmonary hypertension].	Wang GS, etal., Zhonghua Jie He He Hu Xi Za Zhi. 2003 Nov;26(11):664-7.
25.	Knockdown of Linc00052 alleviated spinal nerve ligation-triggered neuropathic pain through regulating miR-448 and JAK1.	Wang L, etal., J Cell Physiol. 2020 Oct;235(10):6528-6535. doi: 10.1002/jcp.29465. Epub 2020 Feb 3.
26.	25-Hydroxyvitamin D3 attenuates experimental periodontitis through downregulation of TLR4 and JAK1/STAT3 signaling in diabetic mice.	Wang Q, etal., J Steroid Biochem Mol Biol. 2013 May;135:43-50. doi: 10.1016/j.jsbmb.2013.01.008. Epub 2013 Jan 18.
27.	Targeting JAK1/STAT3 signaling suppresses tumor progression and metastasis in a peritoneal model of human ovarian cancer.	Wen W, etal., Mol Cancer Ther. 2014 Dec;13(12):3037-48. doi: 10.1158/1535-7163.MCT-14-0077. Epub 2014 Oct 15.
28.	Activating JAK1 mutation may predict the sensitivity of JAK-STAT inhibition in hepatocellular carcinoma.	Yang S, etal., Oncotarget. 2016 Feb 2;7(5):5461-9. doi: 10.18632/oncotarget.6684.
29.	MicroRNA-448 suppresses metastasis of pancreatic ductal adenocarcinoma through targeting JAK1/STAT3 pathway.	Yu DL, etal., Oncol Rep. 2017 Aug;38(2):1075-1082. doi: 10.3892/or.2017.5781. Epub 2017 Jul 3.
30.	Associations of potentially functional variants in IL-6, JAKs and STAT3 with gastric cancer risk in an eastern Chinese population.	Zhou F, etal., Oncotarget. 2016 May 10;7(19):28112-23. doi: 10.18632/oncotarget.8492.

Additional References at PubMed

PMID:1213395	PMID:1373877	PMID:1386289	PMID:1581631	PMID:1848670	PMID:7499365	PMID:7510216	PMID:7512720	PMID:7532278	PMID:7543024	PMID:7543512	PMID:7568001
PMID:7589562	PMID:7615558	PMID:7629131	PMID:7657660	PMID:7690989	PMID:7698020	PMID:7759950	PMID:7896447	PMID:7929391	PMID:7973658	PMID:7973659	PMID:8041779
PMID:8232552	PMID:8247543	PMID:8272872	PMID:8272873	PMID:8493579	PMID:8536716	PMID:8612580	PMID:8626374	PMID:8647212	PMID:8657151	PMID:8700888	PMID:8702790
PMID:8756628	PMID:8995399	PMID:9020188	PMID:9047382	PMID:9133424	PMID:9178903	PMID:9388212	PMID:9417082	PMID:9446616	PMID:9452495	PMID:9484840	PMID:9492017
PMID:9510175	PMID:9516124	PMID:9520455	PMID:9553136	PMID:9566874	PMID:9590172	PMID:9597132	PMID:9632795	PMID:9651359	PMID:9774657	PMID:9774693	PMID:9794795
PMID:10037796	PMID:10373548	PMID:10433356	PMID:10502458	PMID:10531356	PMID:10586060	PMID:10702271	PMID:10707961	PMID:10777583	PMID:10809230	PMID:10825200	PMID:10856136
PMID:10875931	PMID:10899310	PMID:10918587	PMID:10954736	PMID:10982844	PMID:10993906	PMID:11016959	PMID:11036942	PMID:11133764	PMID:11160325	PMID:11162588	PMID:11163768
PMID:11201744	PMID:11294897	PMID:11350938	PMID:11418623	PMID:11468294	PMID:11527382	PMID:11557047	PMID:11694501	PMID:11722592	PMID:11742534	PMID:11751854	PMID:11751884
PMID:11786531	PMID:11801527	PMID:11839738	PMID:11909529	PMID:11940572	PMID:12089333	PMID:12130510	PMID:12133952	PMID:12163560	PMID:12200137	PMID:12207328	PMID:12223098
PMID:12242343	PMID:12244095	PMID:12270932	PMID:12374810	PMID:12403768	PMID:12447867	PMID:12456798	PMID:12477932	PMID:12549820	PMID:12551917	PMID:12559972	PMID:12574355
PMID:12576423	PMID:12620806	PMID:12626508	PMID:12637327	PMID:12734330	PMID:12738762	PMID:12775419	PMID:12777975	PMID:12817007	PMID:12960323	PMID:14551213	PMID:14674010
PMID:14978237	PMID:15063116	PMID:15194700	PMID:15226449	PMID:15277531	PMID:15284024	PMID:15322115	PMID:15526032	PMID:15588985	PMID:15677447	PMID:15864272	PMID:15883164
PMID:15894543	PMID:15923602	PMID:15988755	PMID:15996891	PMID:16102578	PMID:16239216	PMID:16273093	PMID:16280321	PMID:16474838	PMID:16710296	PMID:16767694	PMID:17158029
PMID:17290288	PMID:17353931	PMID:17433443	PMID:17560945	PMID:17641294	PMID:17686504	PMID:17703412	PMID:17951261	PMID:17982039	PMID:18160671	PMID:18178840	PMID:18187620
PMID:18266209	PMID:18270328	PMID:18271526	PMID:18320073	PMID:18362173	PMID:18390202	PMID:18413761	PMID:18430728	PMID:18566411	PMID:18787400	PMID:18787531	PMID:18789440
PMID:18948751	PMID:18976975	PMID:19017763	PMID:19139102	PMID:19167051	PMID:19176360	PMID:19180571	PMID:19239328	PMID:19255588	PMID:19258923	PMID:19361440	PMID:19434718
PMID:19457567	PMID:19464057	PMID:19470474	PMID:19490893	PMID:19559055	PMID:19604093	PMID:19730683	PMID:19764985	PMID:19802007	PMID:19887489	PMID:19900094	PMID:19913121
PMID:20052595	PMID:20065083	PMID:20072651	PMID:20103601	PMID:20128689	PMID:20139093	PMID:20167706	PMID:20237496	PMID:20299512	PMID:20368117	PMID:20379614	PMID:20409569
PMID:20503287	PMID:20588308	PMID:20628086	PMID:20697856	PMID:20816854	PMID:20868368	PMID:20974963	PMID:20980339	PMID:21048031	PMID:21051030	PMID:21151131	PMID:21160051
PMID:21216930	PMID:21220115	PMID:21277633	PMID:21325207	PMID:21420464	PMID:21423176	PMID:21439476	PMID:21537335	PMID:21551237	PMID:21679692	PMID:21689637	PMID:21827323
PMID:21840487	PMID:21861134	PMID:21873635	PMID:21880637	PMID:21880948	PMID:21903422	PMID:21949722	PMID:21965659	PMID:22084247	PMID:22226123	PMID:22301404	PMID:22368272
PMID:22406175	PMID:22427350	PMID:22542455	PMID:22558273	PMID:22661199	PMID:22684105	PMID:22748021	PMID:22798525	PMID:22810586	PMID:22844427	PMID:22859983	PMID:22939624
PMID:23084401	PMID:23184937	PMID:23185365	PMID:23246001	PMID:23402259	PMID:23406773	PMID:23472066	PMID:23487038	PMID:23611997	PMID:23674219	PMID:23703473	PMID:23762317
PMID:23768868	PMID:23818941	PMID:23860541	PMID:23885837	PMID:23920124	PMID:23941832	PMID:23990909	PMID:24048415	PMID:24073214	PMID:24154688	PMID:24158701	PMID:24413661
PMID:24732911	PMID:24843152	PMID:24882218	PMID:24886089	PMID:24905060	PMID:25065853	PMID:25156366	PMID:25174872	PMID:25194337	PMID:25586607	PMID:25589644	PMID:25818476
PMID:25837197	PMID:25852190	PMID:25921289	PMID:25931145	PMID:25959715	PMID:26005883	PMID:26027934	PMID:26119280	PMID:26130650	PMID:26175413	PMID:26186194	PMID:26188635
PMID:26193702	PMID:26215634	PMID:26238487	PMID:26396258	PMID:26479788	PMID:26496610	PMID:26586478	PMID:26631746	PMID:26783077	PMID:26901336	PMID:26937622	PMID:27007833
PMID:27053336	PMID:27132469	PMID:27133025	PMID:27198716	PMID:27213585	PMID:27261451	PMID:27304884	PMID:27342126	PMID:27350337	PMID:27362806	PMID:27371847	PMID:27436342
PMID:27440725	PMID:27545878	PMID:27554814	PMID:27591049	PMID:27725180	PMID:27774581	PMID:27799566	PMID:27893700	PMID:27893714	PMID:27903500	PMID:27998770	PMID:28008925
PMID:28031410	PMID:28039266	PMID:28111307	PMID:28240233	PMID:28298427	PMID:28334721	PMID:28356514	PMID:28410228	PMID:28514442	PMID:28537140	PMID:28560434	PMID:28645562
PMID:28729401	PMID:28879797	PMID:29031523	PMID:29127481	PMID:29162613	PMID:29263442	PMID:29331416	PMID:29405201	PMID:29491746	PMID:29507755	PMID:29508247	PMID:29530480
PMID:29540532	PMID:29581427	PMID:29637270	PMID:29674694	PMID:29844126	PMID:29961565	PMID:29991678	PMID:29997210	PMID:30021884	PMID:30333224	PMID:30463015	PMID:30609030
PMID:30762338	PMID:30936491	PMID:31078730	PMID:31305264	PMID:31348981	PMID:31586073	PMID:31665637	PMID:31743606	PMID:31753913	PMID:31819176	PMID:31871319	PMID:31892268
PMID:31980649	PMID:32001089	PMID:32064884	PMID:32096183	PMID:32123171	PMID:32345774	PMID:32359221	PMID:32456827	PMID:32513989	PMID:32532301	PMID:32636055	PMID:32698014
PMID:32750333	PMID:32767332	PMID:32803897	PMID:32807901	PMID:32814877	PMID:32818015	PMID:32877908	PMID:32953130	PMID:32971831	PMID:33024031	PMID:33099760	PMID:33225311
PMID:33495837	PMID:33512474	PMID:33545068	PMID:33658012	PMID:33731348	PMID:33766124	PMID:33797381	PMID:33827897	PMID:33845483	PMID:33853758	PMID:33961781	PMID:34079125
PMID:34228987	PMID:34283251	PMID:34294846	PMID:34314383	PMID:34315543	PMID:34496019	PMID:34587898	PMID:34627950	PMID:34709727	PMID:34728620	PMID:34778942	PMID:34781228
PMID:34813358	PMID:34950606	PMID:34989544	PMID:35059869	PMID:35317858	PMID:35337019	PMID:35395848	PMID:35545774	PMID:35569717	PMID:35575798	PMID:35710093	PMID:35720342
PMID:35753056	PMID:35914814	PMID:35941108	PMID:35944360	PMID:36159783	PMID:36180527	PMID:36215168	PMID:36376293	PMID:36376931	PMID:36537216	PMID:36543142	PMID:36546480
PMID:36724073	PMID:36736316	PMID:36775874	PMID:36807568	PMID:36934508	PMID:37047778	PMID:37224204	PMID:37249651	PMID:37289831	PMID:37314216	PMID:37433992	PMID:37713898
PMID:37897947	PMID:37925078	PMID:38001065	PMID:38113892	PMID:38117590	PMID:38151137	PMID:38246919	PMID:38270169	PMID:38429845	PMID:38459564	PMID:38563820	PMID:38733583
PMID:39358380

Genomics

Comparative Map Data

JAK1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	64,833,229 - 65,067,746 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	64,833,223 - 65,067,754 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	65,298,912 - 65,533,429 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	65,071,494 - 65,204,775 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	65,012,228 - 65,064,007	NCBI
Celera	1	63,589,792 - 63,723,086 (-)	NCBI		Celera
Cytogenetic Map	1	p31.3	NCBI
HuRef	1	63,407,815 - 63,541,120 (-)	NCBI		HuRef
CHM1_1	1	65,415,253 - 65,548,498 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	64,711,228 - 64,945,755 (-)	NCBI		T2T-CHM13v2.0

Jak1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	101,009,171 - 101,122,493 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	101,009,564 - 101,122,479 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	101,151,974 - 101,265,282 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	101,152,367 - 101,265,282 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	100,824,579 - 100,937,887 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	100,650,964 - 100,763,165 (-)	NCBI		MGSCv36	mm8
Celera	4	99,494,673 - 99,536,518 (-)	NCBI		Celera
Cytogenetic Map	4	C6	NCBI
cM Map	4	46.19	NCBI

Jak1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	120,895,606 - 121,004,207 (-)	NCBI		GRCr8
mRatBN7.2	5	115,780,248 - 115,888,841 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	115,780,248 - 115,888,926 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	118,339,384 - 118,439,691 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	120,064,750 - 120,165,057 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	120,116,031 - 120,216,334 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	119,982,503 - 120,091,452 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	119,982,943 - 120,083,904 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	123,865,078 - 123,973,772 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	121,804,586 - 121,905,581 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	121,813,666 - 121,843,676 (-)	NCBI
Celera	5	114,318,185 - 114,418,922 (-)	NCBI		Celera
Cytogenetic Map	5	q33	NCBI

Jak1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955423	25,524,075 - 25,580,604 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955423	25,501,989 - 25,581,826 (+)	NCBI	ChiLan1.0	ChiLan1.0

JAK1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	161,893,702 - 162,026,305 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	160,944,411 - 161,177,053 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	64,083,562 - 64,315,909 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	65,972,568 - 66,025,070 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	65,973,904 - 66,024,991 (-)	Ensembl	panpan1.1		panPan2

JAK1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	45,251,653 - 45,408,571 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	45,251,653 - 45,408,571 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	45,310,150 - 45,467,121 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	45,434,808 - 45,591,981 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	45,434,808 - 45,596,544 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	45,401,193 - 45,555,602 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	45,345,182 - 45,501,830 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	45,594,991 - 45,751,867 (+)	NCBI		UU_Cfam_GSD_1.0

Jak1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	77,982,726 - 78,038,725 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936692	2,299,504 - 2,354,132 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936692	2,298,149 - 2,354,084 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JAK1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	147,429,056 - 147,567,182 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	147,320,288 - 147,567,188 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	135,899,431 - 135,917,892 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

JAK1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	68,122,134 - 68,253,361 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	68,122,173 - 68,252,042 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	49,273,104 - 49,510,023 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Jak1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624742	29,689,965 - 29,723,981 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624742	29,631,391 - 29,723,981 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in JAK1
597 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	copy number loss	See cases [RCV000050703]	Chr1:60473800..70944955 [GRCh38] Chr1:60939472..71410638 [GRCh37] Chr1:60712060..71183226 [NCBI36] Chr1:1p32.1-31.1	pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	copy number gain	See cases [RCV000051822]	Chr1:52595352..76767765 [GRCh38] Chr1:53061024..77233450 [GRCh37] Chr1:52833612..77006038 [NCBI36] Chr1:1p32.3-31.1	pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	copy number gain	See cases [RCV000051824]	Chr1:61922650..66445757 [GRCh38] Chr1:62388322..66911440 [GRCh37] Chr1:62160910..66684028 [NCBI36] Chr1:1p31.3	pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	copy number loss	See cases [RCV000053841]	Chr1:57350574..71325924 [GRCh38] Chr1:57816246..71791607 [GRCh37] Chr1:57588834..71564195 [NCBI36] Chr1:1p32.2-31.1	pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	copy number loss	See cases [RCV000053842]	Chr1:59632500..76730877 [GRCh38] Chr1:60098172..77196562 [GRCh37] Chr1:59870760..76969150 [NCBI36] Chr1:1p32.1-31.1	pathogenic
NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV002498566]\|not provided [RCV001854629]\|not specified [RCV000121230]	Chr1:64855641 [GRCh38] Chr1:65321324 [GRCh37] Chr1:1p31.3	likely benign\|uncertain significance\|not provided
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV002055339]\|not provided [RCV001725975]\|not specified [RCV000121231]	Chr1:64846685 [GRCh38] Chr1:65312368 [GRCh37] Chr1:1p31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_002227.4(JAK1):c.2234C>T (p.Thr745Met)	single nucleotide variant	not specified [RCV000121232]	Chr1:64844771 [GRCh38] Chr1:65310454 [GRCh37] Chr1:1p31.3	not provided
NM_002227.4(JAK1):c.2498A>G (p.Asn833Ser)	single nucleotide variant	JAK1-related disorder [RCV003925194]\|not provided [RCV001348046]\|not specified [RCV000121233]	Chr1:64841507 [GRCh38] Chr1:65307190 [GRCh37] Chr1:1p31.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_002227.4(JAK1):c.2469C>T (p.Leu823=)	single nucleotide variant	not provided [RCV002055340]\|not specified [RCV000121234]	Chr1:64841536 [GRCh38] Chr1:65307219 [GRCh37] Chr1:1p31.3	likely benign\|not provided
NM_002227.4(JAK1):c.2749A>G (p.Asn917Asp)	single nucleotide variant	not provided [RCV001854630]\|not specified [RCV000121235]	Chr1:64839696 [GRCh38] Chr1:65305379 [GRCh37] Chr1:1p31.3	uncertain significance\|not provided
NM_002227.4(JAK1):c.3463T>C (p.Ter1155Gln)	single nucleotide variant	not provided [RCV002055341]\|not specified [RCV000121236]	Chr1:64834564 [GRCh38] Chr1:65300247 [GRCh37] Chr1:1p31.3	likely benign\|not provided
NM_002227.4(JAK1):c.184A>G (p.Ile62Val)	single nucleotide variant	not provided [RCV001514178]\|not specified [RCV000121237]	Chr1:64883298 [GRCh38] Chr1:65348981 [GRCh37] Chr1:1p31.3	benign\|not provided
NM_002227.4(JAK1):c.1078C>T (p.Arg360Trp)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV002492428]\|not provided [RCV001854631]\|not specified [RCV000121238]	Chr1:64864885 [GRCh38] Chr1:65330568 [GRCh37] Chr1:1p31.3	uncertain significance\|not provided
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	copy number loss	See cases [RCV000133710]	Chr1:59760856..71578052 [GRCh38] Chr1:60226528..72043735 [GRCh37] Chr1:59999116..71816323 [NCBI36] Chr1:1p32.1-31.1	pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	copy number loss	See cases [RCV000134142]	Chr1:58819605..69107108 [GRCh38] Chr1:59285277..69572791 [GRCh37] Chr1:59057865..69345379 [NCBI36] Chr1:1p32.1-31.2	pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	copy number loss	See cases [RCV000136913]	Chr1:58819605..86098611 [GRCh38] Chr1:59285277..86564294 [GRCh37] Chr1:59057865..86336882 [NCBI36] Chr1:1p32.1-22.3	pathogenic
GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	copy number loss	See cases [RCV000140906]	Chr1:64944525..67592003 [GRCh38] Chr1:65410208..68057686 [GRCh37] Chr1:65182796..67830274 [NCBI36] Chr1:1p31.3	likely pathogenic\|uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	copy number gain	See cases [RCV000141758]	Chr1:52787503..67339873 [GRCh38] Chr1:53253175..67805556 [GRCh37] Chr1:53025763..67578144 [NCBI36] Chr1:1p32.3-31.3	likely pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	copy number gain	See cases [RCV000142452]	Chr1:64072618..75518432 [GRCh38] Chr1:64538290..75984117 [GRCh37] Chr1:64310878..75756705 [NCBI36] Chr1:1p31.3-31.1	pathogenic
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV001255134]\|Inborn genetic diseases [RCV000210558]	Chr1:64846735 [GRCh38] Chr1:65312418 [GRCh37] Chr1:1p31.3	pathogenic\|likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1	copy number loss	See cases [RCV000446378]	Chr1:63252828..77402595 [GRCh37] Chr1:1p31.3-31.1	pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3	copy number gain	See cases [RCV000446769]	Chr1:61785602..67430956 [GRCh37] Chr1:1p31.3	pathogenic
NM_002227.4(JAK1):c.1937C>T (p.Ser646Phe)	single nucleotide variant	Lymphoblastic leukemia, acute, with lymphomatous features [RCV000418735]	Chr1:64846699 [GRCh38] Chr1:65312382 [GRCh37] Chr1:1p31.3	likely pathogenic
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)	single nucleotide variant	Acquired polycythemia vera [RCV000429980]\|Acute myeloid leukemia [RCV000430797]\|Leukemia, acute, X-linked [RCV000419919]\|Lymphoblastic leukemia, acute, with lymphomatous features [RCV000440192]	Chr1:64846664 [GRCh38] Chr1:65312347 [GRCh37] Chr1:1p31.3	likely pathogenic
NM_002227.4(JAK1):c.2842+8A>G	single nucleotide variant	not provided [RCV001412270]	Chr1:64839595 [GRCh38] Chr1:65305278 [GRCh37] Chr1:1p31.3	likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	copy number loss	See cases [RCV000511392]	Chr1:64321264..88153669 [GRCh37] Chr1:1p31.3-22.3	pathogenic\|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_002227.4(JAK1):c.856T>C (p.Phe286Leu)	single nucleotide variant	Inborn genetic diseases [RCV003256312]	Chr1:64867000 [GRCh38] Chr1:65332683 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1361G>A (p.Arg454Gln)	single nucleotide variant	Inborn genetic diseases [RCV003283053]	Chr1:64857753 [GRCh38] Chr1:65323436 [GRCh37] Chr1:1p31.3	uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	copy number loss	See cases [RCV000512152]	Chr1:61351024..79583933 [GRCh37] Chr1:1p31.3-31.1	pathogenic
GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	copy number loss	not provided [RCV000684581]	Chr1:64848307..67436595 [GRCh37] Chr1:1p31.3	uncertain significance
GRCh37/hg19 1p31.3(chr1:65332710-65617480)x3	copy number gain	not provided [RCV000684582]	Chr1:65332710..65617480 [GRCh37] Chr1:1p31.3	uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	copy number gain	not provided [RCV000684577]	Chr1:62434799..71656180 [GRCh37] Chr1:1p31.3-31.1	pathogenic
GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	copy number gain	not provided [RCV000684578]	Chr1:62468555..65584629 [GRCh37] Chr1:1p31.3	uncertain significance
GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1	copy number loss	not provided [RCV000684579]	Chr1:62830524..65396403 [GRCh37] Chr1:1p31.3	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_002227.4(JAK1):c.647+7C>T	single nucleotide variant	JAK1-related disorder [RCV003948341]\|not provided [RCV000883801]	Chr1:64869304 [GRCh38] Chr1:65334987 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.360C>T (p.Asn120=)	single nucleotide variant	not provided [RCV000915332]	Chr1:64873493 [GRCh38] Chr1:65339176 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3108C>T (p.Thr1036=)	single nucleotide variant	not provided [RCV000967805]	Chr1:64837964 [GRCh38] Chr1:65303647 [GRCh37] Chr1:1p31.3	benign
Single allele	deletion	Intellectual disability, severe [RCV000824954]	Chr1:59922631..72058653 [GRCh37] Chr1:1p32.1-31.1	pathogenic
NM_002227.4(JAK1):c.3378A>G (p.Gln1126=)	single nucleotide variant	JAK1-related disorder [RCV003923239]\|not provided [RCV000916641]	Chr1:64834649 [GRCh38] Chr1:65300332 [GRCh37] Chr1:1p31.3	benign\|likely benign
NM_002227.4(JAK1):c.1931A>G (p.Gln644Arg)	single nucleotide variant	not provided [RCV003104734]	Chr1:64846705 [GRCh38] Chr1:65312388 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1459-10del	deletion	not provided [RCV003105015]	Chr1:64855708 [GRCh38] Chr1:65321391 [GRCh37] Chr1:1p31.3	likely benign
NC_000001.10:g.(?_65299551)_(65351947_?)dup	duplication	not provided [RCV003107611]	Chr1:65299551..65351947 [GRCh37] Chr1:1p31.3	uncertain significance
NC_000001.10:g.(?_65299551)_(67861772_?)del	deletion	not provided [RCV003107630]	Chr1:65299551..67861772 [GRCh37] Chr1:1p31.3	pathogenic
NM_002227.4(JAK1):c.3093T>C (p.Asp1031=)	single nucleotide variant	JAK1-related disorder [RCV003915812]\|not provided [RCV000952850]	Chr1:64837979 [GRCh38] Chr1:65303662 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.3258+7C>T	single nucleotide variant	not provided [RCV001702181]	Chr1:64836091 [GRCh38] Chr1:65301774 [GRCh37] Chr1:1p31.3	likely benign
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	copy number loss	Chromosome 1p32-p31 deletion syndrome [RCV001263218]	Chr1:53675707..66644963 [GRCh37] Chr1:1p32.3-31.3	pathogenic
NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV001255135]	Chr1:64845520 [GRCh38] Chr1:65311203 [GRCh37] Chr1:1p31.3	pathogenic
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)	single nucleotide variant	Acute megakaryoblastic leukemia in down syndrome [RCV001293764]	Chr1:64844120 [GRCh38] Chr1:65309803 [GRCh37] Chr1:1p31.3	likely pathogenic
NM_002227.4(JAK1):c.1978G>A (p.Asp660Asn)	single nucleotide variant	not provided [RCV001302325]	Chr1:64846658 [GRCh38] Chr1:65312341 [GRCh37] Chr1:1p31.3	likely benign\|uncertain significance
NM_002227.4(JAK1):c.2689G>A (p.Glu897Lys)	single nucleotide variant	not provided [RCV001325287]	Chr1:64839756 [GRCh38] Chr1:65305439 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.287C>T (p.Thr96Ile)	single nucleotide variant	not provided [RCV001302055]	Chr1:64879067 [GRCh38] Chr1:65344750 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1925T>C (p.Met642Thr)	single nucleotide variant	Inborn genetic diseases [RCV004035917]\|not provided [RCV001339941]	Chr1:64846711 [GRCh38] Chr1:65312394 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2841C>T (p.Asp947=)	single nucleotide variant	JAK1-related disorder [RCV003973194]\|not provided [RCV001298719]	Chr1:64839604 [GRCh38] Chr1:65305287 [GRCh37] Chr1:1p31.3	likely benign\|uncertain significance
NM_002227.4(JAK1):c.2181C>T (p.Ile727=)	single nucleotide variant	not provided [RCV001472867]	Chr1:64844824 [GRCh38] Chr1:65310507 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.412T>C (p.Tyr138His)	single nucleotide variant	not provided [RCV001470204]	Chr1:64873441 [GRCh38] Chr1:65339124 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3096G>A (p.Lys1032=)	single nucleotide variant	not provided [RCV001518514]	Chr1:64837976 [GRCh38] Chr1:65303659 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.579T>C (p.Ala193=)	single nucleotide variant	not provided [RCV001518515]	Chr1:64869379 [GRCh38] Chr1:65335062 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.117C>A (p.Ile39=)	single nucleotide variant	not provided [RCV001491878]	Chr1:64883365 [GRCh38] Chr1:65349048 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.414C>A (p.Tyr138Ter)	single nucleotide variant	not provided [RCV001439948]	Chr1:64873439 [GRCh38] Chr1:65339122 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.414C>T (p.Tyr138=)	single nucleotide variant	not provided [RCV001510644]	Chr1:64873439 [GRCh38] Chr1:65339122 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2199A>G (p.Pro733=)	single nucleotide variant	not provided [RCV001521530]\|not specified [RCV003399310]	Chr1:64844806 [GRCh38] Chr1:65310489 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2049C>T (p.Ser683=)	single nucleotide variant	JAK1-related disorder [RCV003983951]\|not provided [RCV001521531]\|not specified [RCV003399311]	Chr1:64845579 [GRCh38] Chr1:65311262 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.3258+16C>A	single nucleotide variant	not provided [RCV001512993]	Chr1:64836082 [GRCh38] Chr1:65301765 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1357T>C (p.Leu453=)	single nucleotide variant	JAK1-related disorder [RCV003938810]\|not provided [RCV001452907]	Chr1:64857757 [GRCh38] Chr1:65323440 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1147A>G (p.Ser383Gly)	single nucleotide variant	not provided [RCV001453375]	Chr1:64864816 [GRCh38] Chr1:65330499 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1335-7C>G	single nucleotide variant	JAK1-related disorder [RCV003948504]\|not provided [RCV001512574]	Chr1:64857786 [GRCh38] Chr1:65323469 [GRCh37] Chr1:1p31.3	benign\|likely benign
NM_002227.4(JAK1):c.1977C>T (p.Arg659=)	single nucleotide variant	JAK1-related disorder [RCV003966129]\|not provided [RCV001521532]	Chr1:64846659 [GRCh38] Chr1:65312342 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1459-7C>T	single nucleotide variant	not provided [RCV001521533]\|not specified [RCV003394105]	Chr1:64855705 [GRCh38] Chr1:65321388 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.912G>A (p.Ser304=)	single nucleotide variant	not provided [RCV001521797]	Chr1:64866944 [GRCh38] Chr1:65332627 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2097C>G (p.Ala699=)	single nucleotide variant	JAK1-related disorder [RCV003980531]\|not provided [RCV001515089]\|not specified [RCV003399286]	Chr1:64845531 [GRCh38] Chr1:65311214 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1590C>T (p.Ile530=)	single nucleotide variant	JAK1-related disorder [RCV003980532]\|not provided [RCV001515090]\|not specified [RCV003399287]	Chr1:64855567 [GRCh38] Chr1:65321250 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.546A>G (p.Gly182=)	single nucleotide variant	JAK1-related disorder [RCV003983934]\|not provided [RCV001515091]\|not specified [RCV003399288]	Chr1:64869412 [GRCh38] Chr1:65335095 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1900-9C>T	single nucleotide variant	not provided [RCV001428226]	Chr1:64846745 [GRCh38] Chr1:65312428 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.991-4T>C	single nucleotide variant	JAK1-related disorder [RCV003908861]\|not provided [RCV001519956]	Chr1:64864976 [GRCh38] Chr1:65330659 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2650-8C>T	single nucleotide variant	not provided [RCV003108694]	Chr1:64839803 [GRCh38] Chr1:65305486 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.367G>C (p.Glu123Gln)	single nucleotide variant	Inborn genetic diseases [RCV002551062]\|not provided [RCV001870643]	Chr1:64873486 [GRCh38] Chr1:65339169 [GRCh37] Chr1:1p31.3	uncertain significance
NC_000001.10:g.(65335158_65339052)_(65352025_65432015)dup	duplication	not specified [RCV004800878]	Chr1:65339052..65352025 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2387A>G (p.Asp796Gly)	single nucleotide variant	not provided [RCV002004248]	Chr1:64844080 [GRCh38] Chr1:65309763 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.351T>C (p.His117=)	single nucleotide variant	JAK1-related disorder [RCV003941247]\|not provided [RCV002004377]	Chr1:64873502 [GRCh38] Chr1:65339185 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1793A>G (p.Tyr598Cys)	single nucleotide variant	not provided [RCV001914102]	Chr1:64847638 [GRCh38] Chr1:65313321 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.98A>G (p.Glu33Gly)	single nucleotide variant	not provided [RCV001874745]	Chr1:64883384 [GRCh38] Chr1:65349067 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2843-4A>G	single nucleotide variant	not provided [RCV001927675]	Chr1:64838593 [GRCh38] Chr1:65304276 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2843-8del	deletion	not provided [RCV002007059]	Chr1:64838597 [GRCh38] Chr1:65304280 [GRCh37] Chr1:1p31.3	likely benign\|uncertain significance
NM_002227.4(JAK1):c.677A>G (p.Asn226Ser)	single nucleotide variant	not provided [RCV001874016]	Chr1:64867179 [GRCh38] Chr1:65332862 [GRCh37] Chr1:1p31.3	likely benign\|uncertain significance
NM_002227.4(JAK1):c.2303A>G (p.Lys768Arg)	single nucleotide variant	not provided [RCV002045400]	Chr1:64844164 [GRCh38] Chr1:65309847 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1077C>G (p.Ile359Met)	single nucleotide variant	Inborn genetic diseases [RCV002563392]\|not provided [RCV001950485]	Chr1:64864886 [GRCh38] Chr1:65330569 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.700C>T (p.Leu234Phe)	single nucleotide variant	not provided [RCV001965598]	Chr1:64867156 [GRCh38] Chr1:65332839 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1330A>G (p.Ile444Val)	single nucleotide variant	not provided [RCV001966286]	Chr1:64860109 [GRCh38] Chr1:65325792 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2779G>A (p.Glu927Lys)	single nucleotide variant	not provided [RCV001948064]	Chr1:64839666 [GRCh38] Chr1:65305349 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.278G>T (p.Arg93Leu)	single nucleotide variant	not provided [RCV002020836]	Chr1:64879076 [GRCh38] Chr1:65344759 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2366A>G (p.Asn789Ser)	single nucleotide variant	not provided [RCV001965713]	Chr1:64844101 [GRCh38] Chr1:65309784 [GRCh37] Chr1:1p31.3	uncertain significance
GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	copy number gain	not specified [RCV002053380]	Chr1:65125111..69186543 [GRCh37] Chr1:1p31.3-31.2	uncertain significance
NM_002227.4(JAK1):c.2649+3A>C	single nucleotide variant	not provided [RCV001985425]	Chr1:64841242 [GRCh38] Chr1:65306925 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3259-3T>C	single nucleotide variant	not provided [RCV001966827]	Chr1:64835509 [GRCh38] Chr1:65301192 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1624C>T (p.Arg542Cys)	single nucleotide variant	not provided [RCV002021380]	Chr1:64855533 [GRCh38] Chr1:65321216 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1050C>G (p.His350Gln)	single nucleotide variant	not provided [RCV001892407]	Chr1:64864913 [GRCh38] Chr1:65330596 [GRCh37] Chr1:1p31.3	uncertain significance
NM_001321852.2(JAK1):c.-78+60494G>T	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV001839240]	Chr1:65007110 [GRCh38] Chr1:65472793 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1177-13TC[3]	microsatellite	not provided [RCV002005895]	Chr1:64860268..64860269 [GRCh38] Chr1:65325951..65325952 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.74C>G (p.Thr25Ser)	single nucleotide variant	not provided [RCV001913416]	Chr1:64883408 [GRCh38] Chr1:65349091 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3361C>G (p.Pro1121Ala)	single nucleotide variant	not provided [RCV001893076]	Chr1:64835404 [GRCh38] Chr1:65301087 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.145C>T (p.Arg49Trp)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV003322626]\|not provided [RCV001984759]	Chr1:64883337 [GRCh38] Chr1:65349020 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2300C>G (p.Ser767Cys)	single nucleotide variant	not provided [RCV002042815]	Chr1:64844167 [GRCh38] Chr1:65309850 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1085A>G (p.Glu362Gly)	single nucleotide variant	not provided [RCV001872595]	Chr1:64864878 [GRCh38] Chr1:65330561 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3462A>T (p.Lys1154Asn)	single nucleotide variant	not provided [RCV001947134]	Chr1:64834565 [GRCh38] Chr1:65300248 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2205C>G (p.Ile735Met)	single nucleotide variant	not provided [RCV001948410]	Chr1:64844800 [GRCh38] Chr1:65310483 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.64T>C (p.Ser22Pro)	single nucleotide variant	not provided [RCV001908533]	Chr1:64883418 [GRCh38] Chr1:65349101 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1202A>C (p.Glu401Ala)	single nucleotide variant	Inborn genetic diseases [RCV003170528]\|not provided [RCV002042707]	Chr1:64860237 [GRCh38] Chr1:65325920 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.6+2T>C	single nucleotide variant	not provided [RCV001891547]	Chr1:64886257 [GRCh38] Chr1:65351940 [GRCh37] Chr1:1p31.3	uncertain significance
NC_000001.10:g.(?_65334974)_(65351947_?)del	deletion	not provided [RCV002019814]	Chr1:65334974..65351947 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2584G>A (p.Ala862Thr)	single nucleotide variant	not provided [RCV001979986]	Chr1:64841310 [GRCh38] Chr1:65306993 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1726G>A (p.Asp576Asn)	single nucleotide variant	not provided [RCV001888111]	Chr1:64850833 [GRCh38] Chr1:65316516 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2953G>A (p.Val985Ile)	single nucleotide variant	not provided [RCV002036192]	Chr1:64838479 [GRCh38] Chr1:65304162 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2678G>A (p.Arg893Lys)	single nucleotide variant	not provided [RCV001937143]	Chr1:64839767 [GRCh38] Chr1:65305450 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.656G>A (p.Arg219Gln)	single nucleotide variant	not provided [RCV002038563]	Chr1:64867200 [GRCh38] Chr1:65332883 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2189A>G (p.Glu730Gly)	single nucleotide variant	not provided [RCV001971888]	Chr1:64844816 [GRCh38] Chr1:65310499 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2477G>A (p.Arg826His)	single nucleotide variant	not provided [RCV001989224]	Chr1:64841528 [GRCh38] Chr1:65307211 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1065G>C (p.Glu355Asp)	single nucleotide variant	not provided [RCV001917334]	Chr1:64864898 [GRCh38] Chr1:65330581 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2215G>A (p.Asp739Asn)	single nucleotide variant	not provided [RCV001942550]	Chr1:64844790 [GRCh38] Chr1:65310473 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.931C>T (p.Leu311Phe)	single nucleotide variant	not provided [RCV001963572]	Chr1:64866925 [GRCh38] Chr1:65332608 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3122G>A (p.Arg1041Gln)	single nucleotide variant	not provided [RCV002015352]	Chr1:64837950 [GRCh38] Chr1:65303633 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1755+9C>T	single nucleotide variant	not provided [RCV001963184]	Chr1:64850795 [GRCh38] Chr1:65316478 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.756CAA[1] (p.Asn253del)	microsatellite	not provided [RCV001981779]	Chr1:64867095..64867097 [GRCh38] Chr1:65332778..65332780 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1541G>T (p.Arg514Leu)	single nucleotide variant	not provided [RCV001887040]	Chr1:64855616 [GRCh38] Chr1:65321299 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.297C>G (p.Asp99Glu)	single nucleotide variant	not provided [RCV001961044]	Chr1:64879057 [GRCh38] Chr1:65344740 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3347G>A (p.Cys1116Tyr)	single nucleotide variant	not provided [RCV001961745]	Chr1:64835418 [GRCh38] Chr1:65301101 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3398A>G (p.Glu1133Gly)	single nucleotide variant	not provided [RCV001887131]	Chr1:64834629 [GRCh38] Chr1:65300312 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.869T>C (p.Met290Thr)	single nucleotide variant	not provided [RCV002038426]	Chr1:64866987 [GRCh38] Chr1:65332670 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.311G>A (p.Arg104Gln)	single nucleotide variant	not provided [RCV001902513]	Chr1:64879043 [GRCh38] Chr1:65344726 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3344C>T (p.Pro1115Leu)	single nucleotide variant	Inborn genetic diseases [RCV002555282]\|not provided [RCV001935095]	Chr1:64835421 [GRCh38] Chr1:65301104 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.827C>G (p.Thr276Ser)	single nucleotide variant	not provided [RCV001921882]	Chr1:64867029 [GRCh38] Chr1:65332712 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3320C>T (p.Thr1107Met)	single nucleotide variant	Inborn genetic diseases [RCV002548870]\|not provided [RCV002027237]	Chr1:64835445 [GRCh38] Chr1:65301128 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3337C>T (p.Arg1113Cys)	single nucleotide variant	not provided [RCV001977506]	Chr1:64835428 [GRCh38] Chr1:65301111 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1598C>T (p.Thr533Met)	single nucleotide variant	not provided [RCV002046209]	Chr1:64855559 [GRCh38] Chr1:65321242 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3124G>T (p.Asp1042Tyr)	single nucleotide variant	not provided [RCV002011125]	Chr1:64837948 [GRCh38] Chr1:65303631 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2183A>G (p.Asp728Gly)	single nucleotide variant	not provided [RCV002031823]	Chr1:64844822 [GRCh38] Chr1:65310505 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2502G>C (p.Gln834His)	single nucleotide variant	not provided [RCV001973719]	Chr1:64841503 [GRCh38] Chr1:65307186 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1535C>T (p.Ser512Leu)	single nucleotide variant	not provided [RCV001952808]	Chr1:64855622 [GRCh38] Chr1:65321305 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.488A>G (p.Gln163Arg)	single nucleotide variant	not provided [RCV002050480]	Chr1:64869470 [GRCh38] Chr1:65335153 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.426G>T (p.Lys142Asn)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV003134313]\|not provided [RCV001974012]	Chr1:64873427 [GRCh38] Chr1:65339110 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1708A>C (p.Met570Leu)	single nucleotide variant	not provided [RCV001991115]	Chr1:64850851 [GRCh38] Chr1:65316534 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1086G>A (p.Glu362=)	single nucleotide variant	not provided [RCV001999502]	Chr1:64864877 [GRCh38] Chr1:65330560 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.884C>T (p.Ser295Leu)	single nucleotide variant	not provided [RCV002028397]	Chr1:64866972 [GRCh38] Chr1:65332655 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3190G>A (p.Val1064Ile)	single nucleotide variant	not provided [RCV001880583]	Chr1:64836166 [GRCh38] Chr1:65301849 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.277C>T (p.Arg93Cys)	single nucleotide variant	not provided [RCV002017769]	Chr1:64879077 [GRCh38] Chr1:65344760 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2128C>G (p.Leu710Val)	single nucleotide variant	not provided [RCV001959877]	Chr1:64844877 [GRCh38] Chr1:65310560 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.919G>T (p.Gly307Cys)	single nucleotide variant	not provided [RCV001973173]	Chr1:64866937 [GRCh38] Chr1:65332620 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3343C>T (p.Pro1115Ser)	single nucleotide variant	not provided [RCV002017887]	Chr1:64835422 [GRCh38] Chr1:65301105 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1540C>T (p.Arg514Cys)	single nucleotide variant	not provided [RCV001980260]	Chr1:64855617 [GRCh38] Chr1:65321300 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2476C>T (p.Arg826Cys)	single nucleotide variant	not provided [RCV001938739]	Chr1:64841529 [GRCh38] Chr1:65307212 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.599A>T (p.Tyr200Phe)	single nucleotide variant	not provided [RCV002017940]	Chr1:64869359 [GRCh38] Chr1:65335042 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1564C>T (p.Leu522Phe)	single nucleotide variant	not provided [RCV001881909]	Chr1:64855593 [GRCh38] Chr1:65321276 [GRCh37] Chr1:1p31.3	uncertain significance
NC_000001.10:g.(?_65300245)_(65351947_?)dup	duplication	not provided [RCV002050484]	Chr1:65300245..65351947 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1220C>T (p.Ser407Phe)	single nucleotide variant	not provided [RCV002015909]	Chr1:64860219 [GRCh38] Chr1:65325902 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1791C>G (p.Ile597Met)	single nucleotide variant	not provided [RCV001996830]	Chr1:64847640 [GRCh38] Chr1:65313323 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.247G>A (p.Glu83Lys)	single nucleotide variant	JAK1-related disorder [RCV003416519]\|not provided [RCV001867775]	Chr1:64879107 [GRCh38] Chr1:65344790 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1529A>G (p.His510Arg)	single nucleotide variant	Inborn genetic diseases [RCV004631806]\|not provided [RCV001924986]	Chr1:64855628 [GRCh38] Chr1:65321311 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2251+3G>T	single nucleotide variant	not provided [RCV002035613]	Chr1:64844751 [GRCh38] Chr1:65310434 [GRCh37] Chr1:1p31.3	likely benign\|uncertain significance
NM_002227.4(JAK1):c.919G>A (p.Gly307Ser)	single nucleotide variant	JAK1-related disorder [RCV004752113]\|not provided [RCV001981298]	Chr1:64866937 [GRCh38] Chr1:65332620 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1534T>A (p.Ser512Thr)	single nucleotide variant	not provided [RCV001940661]	Chr1:64855623 [GRCh38] Chr1:65321306 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2580A>C (p.Lys860Asn)	single nucleotide variant	not provided [RCV002029783]	Chr1:64841314 [GRCh38] Chr1:65306997 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.128C>T (p.Ser43Leu)	single nucleotide variant	not provided [RCV001903957]	Chr1:64883354 [GRCh38] Chr1:65349037 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2301dup (p.Lys768fs)	duplication	not provided [RCV001995860]	Chr1:64844165..64844166 [GRCh38] Chr1:65309848..65309849 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.6+9A>G	single nucleotide variant	not provided [RCV002029138]	Chr1:64886250 [GRCh38] Chr1:65351933 [GRCh37] Chr1:1p31.3	likely benign\|uncertain significance
NM_002227.4(JAK1):c.266A>G (p.Tyr89Cys)	single nucleotide variant	not provided [RCV001979113]	Chr1:64879088 [GRCh38] Chr1:65344771 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3289G>T (p.Gly1097Cys)	single nucleotide variant	not provided [RCV001977016]	Chr1:64835476 [GRCh38] Chr1:65301159 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2883G>A (p.Ser961=)	single nucleotide variant	not provided [RCV001878716]	Chr1:64838549 [GRCh38] Chr1:65304232 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2475C>A (p.Thr825=)	single nucleotide variant	not provided [RCV002166012]	Chr1:64841530 [GRCh38] Chr1:65307213 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1176+17del	deletion	not provided [RCV002130826]	Chr1:64864770 [GRCh38] Chr1:65330453 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1284C>T (p.Ala428=)	single nucleotide variant	not provided [RCV002129952]	Chr1:64860155 [GRCh38] Chr1:65325838 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2632A>G (p.Ile878Val)	single nucleotide variant	JAK1-related disorder [RCV003893225]\|not provided [RCV002092901]	Chr1:64841262 [GRCh38] Chr1:65306945 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1389C>T (p.Tyr463=)	single nucleotide variant	not provided [RCV002145479]	Chr1:64857725 [GRCh38] Chr1:65323408 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1335-16C>T	single nucleotide variant	not provided [RCV002126628]	Chr1:64857795 [GRCh38] Chr1:65323478 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3140+8A>C	single nucleotide variant	not provided [RCV002126639]	Chr1:64837924 [GRCh38] Chr1:65303607 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.432A>C (p.Pro144=)	single nucleotide variant	not provided [RCV002190366]	Chr1:64873421 [GRCh38] Chr1:65339104 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.486A>G (p.Gly162=)	single nucleotide variant	not provided [RCV002147471]	Chr1:64869472 [GRCh38] Chr1:65335155 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1290G>A (p.Pro430=)	single nucleotide variant	not provided [RCV002105770]	Chr1:64860149 [GRCh38] Chr1:65325832 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1980C>T (p.Asp660=)	single nucleotide variant	not provided [RCV002111092]	Chr1:64846656 [GRCh38] Chr1:65312339 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.126G>A (p.Leu42=)	single nucleotide variant	not provided [RCV002086265]	Chr1:64883356 [GRCh38] Chr1:65349039 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1755+10G>A	single nucleotide variant	not provided [RCV002124359]	Chr1:64850794 [GRCh38] Chr1:65316477 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.657A>T (p.Arg219=)	single nucleotide variant	not provided [RCV002089260]	Chr1:64867199 [GRCh38] Chr1:65332882 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2403+18G>A	single nucleotide variant	not provided [RCV002130613]	Chr1:64844046 [GRCh38] Chr1:65309729 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2968-7C>T	single nucleotide variant	not provided [RCV002205521]	Chr1:64838111 [GRCh38] Chr1:65303794 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1900-8G>A	single nucleotide variant	not provided [RCV002089693]	Chr1:64846744 [GRCh38] Chr1:65312427 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2364C>T (p.Tyr788=)	single nucleotide variant	not provided [RCV002111520]	Chr1:64844103 [GRCh38] Chr1:65309786 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2997C>T (p.Tyr999=)	single nucleotide variant	not provided [RCV002185853]	Chr1:64838075 [GRCh38] Chr1:65303758 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2619C>G (p.Arg873=)	single nucleotide variant	not provided [RCV002147043]	Chr1:64841275 [GRCh38] Chr1:65306958 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.288C>T (p.Thr96=)	single nucleotide variant	not provided [RCV002073825]	Chr1:64879066 [GRCh38] Chr1:65344749 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.991-10A>G	single nucleotide variant	not provided [RCV002072472]	Chr1:64864982 [GRCh38] Chr1:65330665 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3090C>T (p.Thr1030=)	single nucleotide variant	not provided [RCV002190756]	Chr1:64837982 [GRCh38] Chr1:65303665 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2220C>T (p.Pro740=)	single nucleotide variant	not provided [RCV002165950]	Chr1:64844785 [GRCh38] Chr1:65310468 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1698C>T (p.Pro566=)	single nucleotide variant	not provided [RCV002129517]	Chr1:64850861 [GRCh38] Chr1:65316544 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.501G>A (p.Val167=)	single nucleotide variant	not provided [RCV002208017]	Chr1:64869457 [GRCh38] Chr1:65335140 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3369+15C>T	single nucleotide variant	not provided [RCV002164944]	Chr1:64835381 [GRCh38] Chr1:65301064 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.246C>T (p.Asp82=)	single nucleotide variant	not provided [RCV002109621]	Chr1:64879108 [GRCh38] Chr1:65344791 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2160C>T (p.Leu720=)	single nucleotide variant	not provided [RCV002111119]	Chr1:64844845 [GRCh38] Chr1:65310528 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1956C>T (p.Tyr652=)	single nucleotide variant	not provided [RCV002147784]	Chr1:64846680 [GRCh38] Chr1:65312363 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1704C>T (p.Tyr568=)	single nucleotide variant	not provided [RCV002164825]	Chr1:64850855 [GRCh38] Chr1:65316538 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.780C>T (p.Ser260=)	single nucleotide variant	not provided [RCV002126741]	Chr1:64867076 [GRCh38] Chr1:65332759 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.21A>G (p.Lys7=)	single nucleotide variant	not provided [RCV002075532]	Chr1:64883461 [GRCh38] Chr1:65349144 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2394G>A (p.Thr798=)	single nucleotide variant	JAK1-related disorder [RCV003933423]\|not provided [RCV002105250]	Chr1:64844073 [GRCh38] Chr1:65309756 [GRCh37] Chr1:1p31.3	benign\|likely benign
NM_002227.4(JAK1):c.2778C>T (p.Ile926=)	single nucleotide variant	not provided [RCV002153488]	Chr1:64839667 [GRCh38] Chr1:65305350 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1824C>T (p.Asp608=)	single nucleotide variant	not provided [RCV002124355]	Chr1:64847607 [GRCh38] Chr1:65313290 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2112C>T (p.Tyr704=)	single nucleotide variant	not provided [RCV002117220]	Chr1:64845516 [GRCh38] Chr1:65311199 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1649-9C>T	single nucleotide variant	not provided [RCV002114074]	Chr1:64850919 [GRCh38] Chr1:65316602 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3338G>A (p.Arg1113His)	single nucleotide variant	not provided [RCV002224613]	Chr1:64835427 [GRCh38] Chr1:65301110 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2388C>T (p.Asp796=)	single nucleotide variant	not provided [RCV002109275]	Chr1:64844079 [GRCh38] Chr1:65309762 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2629A>C (p.Arg877=)	single nucleotide variant	JAK1-related disorder [RCV003933422]\|not provided [RCV002113041]	Chr1:64841265 [GRCh38] Chr1:65306948 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1596C>T (p.Arg532=)	single nucleotide variant	not provided [RCV002134743]	Chr1:64855561 [GRCh38] Chr1:65321244 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1440C>T (p.Thr480=)	single nucleotide variant	not provided [RCV002116689]	Chr1:64857674 [GRCh38] Chr1:65323357 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.504A>G (p.Lys168=)	single nucleotide variant	not provided [RCV002085021]	Chr1:64869454 [GRCh38] Chr1:65335137 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1278C>T (p.Asp426=)	single nucleotide variant	not provided [RCV002096501]	Chr1:64860161 [GRCh38] Chr1:65325844 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.561C>T (p.Asn187=)	single nucleotide variant	not provided [RCV002115113]	Chr1:64869397 [GRCh38] Chr1:65335080 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1485C>T (p.Phe495=)	single nucleotide variant	not provided [RCV002113304]	Chr1:64855672 [GRCh38] Chr1:65321355 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2555-5G>A	single nucleotide variant	not provided [RCV002168167]	Chr1:64841344 [GRCh38] Chr1:65307027 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1649-13A>G	single nucleotide variant	not provided [RCV002151917]	Chr1:64850923 [GRCh38] Chr1:65316606 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2652C>T (p.Gly884=)	single nucleotide variant	not provided [RCV002150865]	Chr1:64839793 [GRCh38] Chr1:65305476 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1756-11T>C	single nucleotide variant	not provided [RCV002174692]	Chr1:64847686 [GRCh38] Chr1:65313369 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2985T>C (p.Gly995=)	single nucleotide variant	not provided [RCV002192829]	Chr1:64838087 [GRCh38] Chr1:65303770 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1998G>A (p.Val666=)	single nucleotide variant	not provided [RCV002190021]	Chr1:64845630 [GRCh38] Chr1:65311313 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2625A>G (p.Leu875=)	single nucleotide variant	not provided [RCV002191517]	Chr1:64841269 [GRCh38] Chr1:65306952 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2555-5G>T	single nucleotide variant	JAK1-related disorder [RCV003978572]\|not provided [RCV002214779]	Chr1:64841344 [GRCh38] Chr1:65307027 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1177-11T>C	single nucleotide variant	not provided [RCV002094042]	Chr1:64860273 [GRCh38] Chr1:65325956 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3345G>A (p.Pro1115=)	single nucleotide variant	not provided [RCV002187385]	Chr1:64835420 [GRCh38] Chr1:65301103 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2271A>G (p.Pro757=)	single nucleotide variant	not provided [RCV002114027]	Chr1:64844196 [GRCh38] Chr1:65309879 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1756-16C>T	single nucleotide variant	not provided [RCV002115710]	Chr1:64847691 [GRCh38] Chr1:65313374 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.3078A>G (p.Lys1026=)	single nucleotide variant	not provided [RCV002079372]	Chr1:64837994 [GRCh38] Chr1:65303677 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.484-14C>T	single nucleotide variant	not provided [RCV002076573]	Chr1:64869488 [GRCh38] Chr1:65335171 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2853T>C (p.Gly951=)	single nucleotide variant	not provided [RCV002080213]	Chr1:64838579 [GRCh38] Chr1:65304262 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1900-18T>C	single nucleotide variant	not provided [RCV002113722]	Chr1:64846754 [GRCh38] Chr1:65312437 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.6+10T>C	single nucleotide variant	not provided [RCV002196906]	Chr1:64886249 [GRCh38] Chr1:65351932 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1747C>T (p.Leu583=)	single nucleotide variant	not provided [RCV002093830]	Chr1:64850812 [GRCh38] Chr1:65316495 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2343C>T (p.Thr781=)	single nucleotide variant	not provided [RCV002150279]	Chr1:64844124 [GRCh38] Chr1:65309807 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1428C>T (p.Leu476=)	single nucleotide variant	not provided [RCV002148756]	Chr1:64857686 [GRCh38] Chr1:65323369 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2040C>T (p.His680=)	single nucleotide variant	not provided [RCV002113225]	Chr1:64845588 [GRCh38] Chr1:65311271 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1756-11T>G	single nucleotide variant	not provided [RCV002114330]	Chr1:64847686 [GRCh38] Chr1:65313369 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2967+9_2967+12del	deletion	not provided [RCV002171626]	Chr1:64838453..64838456 [GRCh38] Chr1:65304136..65304139 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2703A>G (p.Thr901=)	single nucleotide variant	not provided [RCV002159715]	Chr1:64839742 [GRCh38] Chr1:65305425 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1275C>T (p.Thr425=)	single nucleotide variant	not provided [RCV002181018]	Chr1:64860164 [GRCh38] Chr1:65325847 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2980T>C (p.Leu994=)	single nucleotide variant	not provided [RCV002201945]	Chr1:64838092 [GRCh38] Chr1:65303775 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.483+15C>T	single nucleotide variant	not provided [RCV002177318]	Chr1:64873355 [GRCh38] Chr1:65339038 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1649-6_1649-5del	deletion	not provided [RCV002203867]	Chr1:64850915..64850916 [GRCh38] Chr1:65316598..65316599 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1176+14A>G	single nucleotide variant	not provided [RCV002177780]	Chr1:64864773 [GRCh38] Chr1:65330456 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1440C>G (p.Thr480=)	single nucleotide variant	not provided [RCV002136250]	Chr1:64857674 [GRCh38] Chr1:65323357 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1648+14T>C	single nucleotide variant	not provided [RCV002176376]	Chr1:64855495 [GRCh38] Chr1:65321178 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.453T>C (p.Asp151=)	single nucleotide variant	not provided [RCV002120661]	Chr1:64873400 [GRCh38] Chr1:65339083 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.438A>C (p.Ala146=)	single nucleotide variant	not provided [RCV002102867]	Chr1:64873415 [GRCh38] Chr1:65339098 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2103C>T (p.Ala701=)	single nucleotide variant	not provided [RCV002099679]	Chr1:64845525 [GRCh38] Chr1:65311208 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2784C>A (p.Ile928=)	single nucleotide variant	not provided [RCV002182792]	Chr1:64839661 [GRCh38] Chr1:65305344 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.99G>A (p.Glu33=)	single nucleotide variant	not provided [RCV002154056]	Chr1:64883383 [GRCh38] Chr1:65349066 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1458+17G>A	single nucleotide variant	not provided [RCV002139383]	Chr1:64857639 [GRCh38] Chr1:65323322 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.520C>A (p.Arg174=)	single nucleotide variant	not provided [RCV002154359]	Chr1:64869438 [GRCh38] Chr1:65335121 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2163C>T (p.Leu721=)	single nucleotide variant	not provided [RCV002202033]	Chr1:64844842 [GRCh38] Chr1:65310525 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1095T>C (p.Asn365=)	single nucleotide variant	not provided [RCV002137990]	Chr1:64864868 [GRCh38] Chr1:65330551 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3321G>A (p.Thr1107=)	single nucleotide variant	not provided [RCV002084064]	Chr1:64835444 [GRCh38] Chr1:65301127 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.205+19C>T	single nucleotide variant	not provided [RCV002138081]	Chr1:64883258 [GRCh38] Chr1:65348941 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1248A>C (p.Thr416=)	single nucleotide variant	not provided [RCV002156870]	Chr1:64860191 [GRCh38] Chr1:65325874 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1648+11C>A	single nucleotide variant	not provided [RCV002098968]	Chr1:64855498 [GRCh38] Chr1:65321181 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2241G>A (p.Leu747=)	single nucleotide variant	not provided [RCV002175267]	Chr1:64844764 [GRCh38] Chr1:65310447 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2988T>G (p.Ser996=)	single nucleotide variant	not provided [RCV002139151]	Chr1:64838084 [GRCh38] Chr1:65303767 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2283T>C (p.Pro761=)	single nucleotide variant	not provided [RCV002102087]	Chr1:64844184 [GRCh38] Chr1:65309867 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.647+20G>A	single nucleotide variant	not provided [RCV002121571]	Chr1:64869291 [GRCh38] Chr1:65334974 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.991-6T>C	single nucleotide variant	not provided [RCV002103894]	Chr1:64864978 [GRCh38] Chr1:65330661 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2370C>T (p.Gly790=)	single nucleotide variant	not provided [RCV002221106]	Chr1:64844097 [GRCh38] Chr1:65309780 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3140+19T>C	single nucleotide variant	not provided [RCV002139880]	Chr1:64837913 [GRCh38] Chr1:65303596 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3369+16G>A	single nucleotide variant	not provided [RCV002183493]	Chr1:64835380 [GRCh38] Chr1:65301063 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1827A>G (p.Glu609=)	single nucleotide variant	not provided [RCV002155198]	Chr1:64847604 [GRCh38] Chr1:65313287 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.991-16T>C	single nucleotide variant	not provided [RCV002157191]	Chr1:64864988 [GRCh38] Chr1:65330671 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2968-9C>G	single nucleotide variant	not provided [RCV002122415]	Chr1:64838113 [GRCh38] Chr1:65303796 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2649+13C>T	single nucleotide variant	not provided [RCV002201675]	Chr1:64841232 [GRCh38] Chr1:65306915 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1334+11G>A	single nucleotide variant	not provided [RCV002081497]	Chr1:64860094 [GRCh38] Chr1:65325777 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3405A>G (p.Gln1135=)	single nucleotide variant	not provided [RCV002216883]	Chr1:64834622 [GRCh38] Chr1:65300305 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1527G>A (p.Leu509=)	single nucleotide variant	not provided [RCV002100271]	Chr1:64855630 [GRCh38] Chr1:65321313 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1900-11C>T	single nucleotide variant	not provided [RCV002198619]	Chr1:64846747 [GRCh38] Chr1:65312430 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2967+11A>G	single nucleotide variant	not provided [RCV002141615]	Chr1:64838454 [GRCh38] Chr1:65304137 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2688C>T (p.Pro896=)	single nucleotide variant	not provided [RCV002178236]	Chr1:64839757 [GRCh38] Chr1:65305440 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1563C>T (p.Asp521=)	single nucleotide variant	not provided [RCV002202713]	Chr1:64855594 [GRCh38] Chr1:65321277 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1335-14A>G	single nucleotide variant	not provided [RCV002176838]	Chr1:64857793 [GRCh38] Chr1:65323476 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.927C>T (p.Asn309=)	single nucleotide variant	not provided [RCV002155846]	Chr1:64866929 [GRCh38] Chr1:65332612 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.914A>G (p.Asn305Ser)	single nucleotide variant	not provided [RCV003115810]	Chr1:64866942 [GRCh38] Chr1:65332625 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1530C>T (p.His510=)	single nucleotide variant	not provided [RCV003114964]	Chr1:64855627 [GRCh38] Chr1:65321310 [GRCh37] Chr1:1p31.3	likely benign
NC_000001.10:g.(?_61548464)_(67861772_?)del	deletion	not provided [RCV003116397]	Chr1:61548464..67861772 [GRCh37] Chr1:1p31.3	pathogenic
NM_002227.4(JAK1):c.1375G>A (p.Glu459Lys)	single nucleotide variant	not provided [RCV003121564]	Chr1:64857739 [GRCh38] Chr1:65323422 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.85C>G (p.Leu29Val)	single nucleotide variant	not provided [RCV003119001]	Chr1:64883397 [GRCh38] Chr1:65349080 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1786C>G (p.His596Asp)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV002280062]	Chr1:64847645 [GRCh38] Chr1:65313328 [GRCh37] Chr1:1p31.3	pathogenic
NM_002227.4(JAK1):c.2236G>A (p.Val746Met)	single nucleotide variant	Inborn genetic diseases [RCV003256398]	Chr1:64844769 [GRCh38] Chr1:65310452 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1567A>C (p.Met523Leu)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV003131289]	Chr1:64855590 [GRCh38] Chr1:65321273 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.653A>T (p.Lys218Met)	single nucleotide variant	not provided [RCV002303428]	Chr1:64867203 [GRCh38] Chr1:65332886 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1705C>T (p.Pro569Ser)	single nucleotide variant	not provided [RCV002305408]	Chr1:64850854 [GRCh38] Chr1:65316537 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2211C>T (p.Leu737=)	single nucleotide variant	not provided [RCV002863451]	Chr1:64844794 [GRCh38] Chr1:65310477 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2265A>C (p.Arg755=)	single nucleotide variant	not provided [RCV002863408]	Chr1:64844202 [GRCh38] Chr1:65309885 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.129G>A (p.Ser43=)	single nucleotide variant	not provided [RCV002614282]	Chr1:64883353 [GRCh38] Chr1:65349036 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2769A>G (p.Lys923=)	single nucleotide variant	not provided [RCV002861867]	Chr1:64839676 [GRCh38] Chr1:65305359 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3369+4T>G	single nucleotide variant	not provided [RCV002994004]	Chr1:64835392 [GRCh38] Chr1:65301075 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1177-18T>C	single nucleotide variant	not provided [RCV003012138]	Chr1:64860280 [GRCh38] Chr1:65325963 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1475A>G (p.Gln492Arg)	single nucleotide variant	not provided [RCV002815792]	Chr1:64855682 [GRCh38] Chr1:65321365 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2676C>T (p.Cys892=)	single nucleotide variant	not provided [RCV002756575]	Chr1:64839769 [GRCh38] Chr1:65305452 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2252-13T>C	single nucleotide variant	not provided [RCV002751054]	Chr1:64844228 [GRCh38] Chr1:65309911 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1961A>G (p.Tyr654Cys)	single nucleotide variant	not provided [RCV002819544]	Chr1:64846675 [GRCh38] Chr1:65312358 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1756-2A>T	single nucleotide variant	not provided [RCV003035103]	Chr1:64847677 [GRCh38] Chr1:65313360 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1341A>G (p.Glu447=)	single nucleotide variant	not provided [RCV002730523]	Chr1:64857773 [GRCh38] Chr1:65323456 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2110T>C (p.Tyr704His)	single nucleotide variant	not provided [RCV002970760]	Chr1:64845518 [GRCh38] Chr1:65311201 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3027C>T (p.Val1009=)	single nucleotide variant	JAK1-related disorder [RCV003963511]\|not provided [RCV002975614]	Chr1:64838045 [GRCh38] Chr1:65303728 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2116-4G>T	single nucleotide variant	not provided [RCV002613771]	Chr1:64844893 [GRCh38] Chr1:65310576 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2116-7T>C	single nucleotide variant	not provided [RCV002862994]	Chr1:64844896 [GRCh38] Chr1:65310579 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.228C>T (p.Asn76=)	single nucleotide variant	not provided [RCV002751528]	Chr1:64879126 [GRCh38] Chr1:65344809 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.907C>A (p.His303Asn)	single nucleotide variant	not provided [RCV002730384]	Chr1:64866949 [GRCh38] Chr1:65332632 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1959C>T (p.Leu653=)	single nucleotide variant	not provided [RCV003015515]	Chr1:64846677 [GRCh38] Chr1:65312360 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.330-12C>T	single nucleotide variant	not provided [RCV002731089]	Chr1:64873535 [GRCh38] Chr1:65339218 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.654G>A (p.Lys218=)	single nucleotide variant	not provided [RCV002970911]	Chr1:64867202 [GRCh38] Chr1:65332885 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2230A>T (p.Ile744Phe)	single nucleotide variant	Inborn genetic diseases [RCV002841468]	Chr1:64844775 [GRCh38] Chr1:65310458 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.863C>T (p.Thr288Ile)	single nucleotide variant	Inborn genetic diseases [RCV002864058]	Chr1:64866993 [GRCh38] Chr1:65332676 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2426G>A (p.Arg809Gln)	single nucleotide variant	not provided [RCV002617472]	Chr1:64841579 [GRCh38] Chr1:65307262 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.810C>T (p.Tyr270=)	single nucleotide variant	not provided [RCV003016644]	Chr1:64867046 [GRCh38] Chr1:65332729 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2115+1G>A	single nucleotide variant	not provided [RCV002870758]	Chr1:64845512 [GRCh38] Chr1:65311195 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2856T>C (p.Ile952=)	single nucleotide variant	not provided [RCV003053533]	Chr1:64838576 [GRCh38] Chr1:65304259 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2136T>C (p.His712=)	single nucleotide variant	not provided [RCV002848404]	Chr1:64844869 [GRCh38] Chr1:65310552 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.458G>A (p.Ser153Asn)	single nucleotide variant	Inborn genetic diseases [RCV002798805]	Chr1:64873395 [GRCh38] Chr1:65339078 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2949T>C (p.Tyr983=)	single nucleotide variant	not provided [RCV002867573]	Chr1:64838483 [GRCh38] Chr1:65304166 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2371G>A (p.Glu791Lys)	single nucleotide variant	Inborn genetic diseases [RCV002762075]	Chr1:64844096 [GRCh38] Chr1:65309779 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2252-12G>T	single nucleotide variant	not provided [RCV003003003]	Chr1:64844227 [GRCh38] Chr1:65309910 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.141C>T (p.Pro47=)	single nucleotide variant	not provided [RCV003002934]	Chr1:64883341 [GRCh38] Chr1:65349024 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1826_1828del (p.Glu609del)	deletion	not provided [RCV002847250]	Chr1:64847603..64847605 [GRCh38] Chr1:65313286..65313288 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.651C>T (p.Tyr217=)	single nucleotide variant	not provided [RCV002885352]	Chr1:64867205 [GRCh38] Chr1:65332888 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3140+5C>T	single nucleotide variant	not provided [RCV002736383]	Chr1:64837927 [GRCh38] Chr1:65303610 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.484-20T>G	single nucleotide variant	not provided [RCV002847312]	Chr1:64869494 [GRCh38] Chr1:65335177 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2116-17_2116-4dup	duplication	not provided [RCV002621569]	Chr1:64844892..64844893 [GRCh38] Chr1:65310575..65310576 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2409G>A (p.Glu803=)	single nucleotide variant	not provided [RCV002999352]	Chr1:64841596 [GRCh38] Chr1:65307279 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1390G>A (p.Val464Met)	single nucleotide variant	not provided [RCV002795272]	Chr1:64857724 [GRCh38] Chr1:65323407 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.844G>A (p.Gly282Ser)	single nucleotide variant	Inborn genetic diseases [RCV002691963]	Chr1:64867012 [GRCh38] Chr1:65332695 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.990+8G>C	single nucleotide variant	not provided [RCV003018022]	Chr1:64866858 [GRCh38] Chr1:65332541 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2221G>A (p.Gly741Ser)	single nucleotide variant	not provided [RCV002695294]	Chr1:64844784 [GRCh38] Chr1:65310467 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2919C>A (p.Asn973Lys)	single nucleotide variant	not provided [RCV002756738]	Chr1:64838513 [GRCh38] Chr1:65304196 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3258+15dup	duplication	not provided [RCV003054208]	Chr1:64836082..64836083 [GRCh38] Chr1:65301765..65301766 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.483+10T>C	single nucleotide variant	not provided [RCV002705721]	Chr1:64873360 [GRCh38] Chr1:65339043 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3249T>C (p.Ser1083=)	single nucleotide variant	not provided [RCV003002286]	Chr1:64836107 [GRCh38] Chr1:65301790 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.801G>A (p.Lys267=)	single nucleotide variant	not provided [RCV002909259]	Chr1:64867055 [GRCh38] Chr1:65332738 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.918C>T (p.Asp306=)	single nucleotide variant	not provided [RCV002621737]	Chr1:64866938 [GRCh38] Chr1:65332621 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2403+17C>T	single nucleotide variant	not provided [RCV002706406]	Chr1:64844047 [GRCh38] Chr1:65309730 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.924A>G (p.Gly308=)	single nucleotide variant	not provided [RCV003100605]	Chr1:64866932 [GRCh38] Chr1:65332615 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.252C>T (p.Asn84=)	single nucleotide variant	not provided [RCV003079371]	Chr1:64879102 [GRCh38] Chr1:65344785 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2302A>G (p.Lys768Glu)	single nucleotide variant	not provided [RCV003018197]	Chr1:64844165 [GRCh38] Chr1:65309848 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1749G>T (p.Leu583=)	single nucleotide variant	not provided [RCV003020391]	Chr1:64850810 [GRCh38] Chr1:65316493 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3225G>T (p.Leu1075=)	single nucleotide variant	not provided [RCV002867256]	Chr1:64836131 [GRCh38] Chr1:65301814 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2792A>G (p.Asn931Ser)	single nucleotide variant	not provided [RCV002785395]	Chr1:64839653 [GRCh38] Chr1:65305336 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1908C>T (p.Phe636=)	single nucleotide variant	not provided [RCV002591214]	Chr1:64846728 [GRCh38] Chr1:65312411 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3036G>A (p.Glu1012=)	single nucleotide variant	not provided [RCV003018576]	Chr1:64838036 [GRCh38] Chr1:65303719 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1758C>T (p.Gly586=)	single nucleotide variant	not provided [RCV003052956]	Chr1:64847673 [GRCh38] Chr1:65313356 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.322C>T (p.Arg108Trp)	single nucleotide variant	not provided [RCV002829823]	Chr1:64879032 [GRCh38] Chr1:65344715 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3372T>G (p.Val1124=)	single nucleotide variant	not provided [RCV002766662]	Chr1:64834655 [GRCh38] Chr1:65300338 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3048A>C (p.Gln1016His)	single nucleotide variant	not provided [RCV002597164]	Chr1:64838024 [GRCh38] Chr1:65303707 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.12A>T (p.Leu4=)	single nucleotide variant	not provided [RCV002917705]	Chr1:64883470 [GRCh38] Chr1:65349153 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3189C>T (p.Asp1063=)	single nucleotide variant	not provided [RCV002644133]	Chr1:64836167 [GRCh38] Chr1:65301850 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1699G>A (p.Val567Ile)	single nucleotide variant	not provided [RCV002596405]	Chr1:64850860 [GRCh38] Chr1:65316543 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2554+7C>T	single nucleotide variant	not provided [RCV002645678]	Chr1:64841444 [GRCh38] Chr1:65307127 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1648+5G>A	single nucleotide variant	not provided [RCV003024532]	Chr1:64855504 [GRCh38] Chr1:65321187 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1459-6G>A	single nucleotide variant	not provided [RCV002597290]	Chr1:64855704 [GRCh38] Chr1:65321387 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2346G>A (p.Thr782=)	single nucleotide variant	not provided [RCV002701005]	Chr1:64844121 [GRCh38] Chr1:65309804 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.991-20C>T	single nucleotide variant	not provided [RCV003022726]	Chr1:64864992 [GRCh38] Chr1:65330675 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2203A>G (p.Ile735Val)	single nucleotide variant	Inborn genetic diseases [RCV002929350]\|not provided [RCV003730312]	Chr1:64844802 [GRCh38] Chr1:65310485 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.692A>G (p.Gln231Arg)	single nucleotide variant	not provided [RCV002890605]	Chr1:64867164 [GRCh38] Chr1:65332847 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3258+8C>T	single nucleotide variant	not provided [RCV002594132]	Chr1:64836090 [GRCh38] Chr1:65301773 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1158G>A (p.Lys386=)	single nucleotide variant	JAK1-related disorder [RCV003943432]\|not provided [RCV002573114]	Chr1:64864805 [GRCh38] Chr1:65330488 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3317A>C (p.Asn1106Thr)	single nucleotide variant	not provided [RCV002711486]	Chr1:64835448 [GRCh38] Chr1:65301131 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1177-17T>G	single nucleotide variant	not provided [RCV002917401]	Chr1:64860279 [GRCh38] Chr1:65325962 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3361C>T (p.Pro1121Ser)	single nucleotide variant	not provided [RCV002928948]	Chr1:64835404 [GRCh38] Chr1:65301087 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1188C>G (p.Leu396=)	single nucleotide variant	not provided [RCV002872629]	Chr1:64860251 [GRCh38] Chr1:65325934 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.700C>A (p.Leu234Ile)	single nucleotide variant	not provided [RCV003058142]	Chr1:64867156 [GRCh38] Chr1:65332839 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1537G>A (p.Asp513Asn)	single nucleotide variant	not provided [RCV003007728]	Chr1:64855620 [GRCh38] Chr1:65321303 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.289G>A (p.Val97Ile)	single nucleotide variant	not provided [RCV002711154]	Chr1:64879065 [GRCh38] Chr1:65344748 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1611C>T (p.Ser537=)	single nucleotide variant	not provided [RCV003005395]	Chr1:64855546 [GRCh38] Chr1:65321229 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.278G>A (p.Arg93His)	single nucleotide variant	not provided [RCV002790758]	Chr1:64879076 [GRCh38] Chr1:65344759 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1061A>T (p.Glu354Val)	single nucleotide variant	not provided [RCV002573115]	Chr1:64864902 [GRCh38] Chr1:65330585 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1531G>A (p.Gly511Ser)	single nucleotide variant	not provided [RCV003057305]	Chr1:64855626 [GRCh38] Chr1:65321309 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.116TCT[1] (p.Phe40del)	microsatellite	not provided [RCV002805495]	Chr1:64883361..64883363 [GRCh38] Chr1:65349044..65349046 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3138T>C (p.Phe1046=)	single nucleotide variant	not provided [RCV002957567]	Chr1:64837934 [GRCh38] Chr1:65303617 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1123A>G (p.Ile375Val)	single nucleotide variant	not provided [RCV002626740]	Chr1:64864840 [GRCh38] Chr1:65330523 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2116-9dup	duplication	not provided [RCV003022263]	Chr1:64844897..64844898 [GRCh38] Chr1:65310580..65310581 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3413A>G (p.Asn1138Ser)	single nucleotide variant	JAK1-related disorder [RCV004750764]\|not provided [RCV002710673]	Chr1:64834614 [GRCh38] Chr1:65300297 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1756-13C>T	single nucleotide variant	not provided [RCV002853058]	Chr1:64847688 [GRCh38] Chr1:65313371 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.928G>A (p.Val310Ile)	single nucleotide variant	not provided [RCV002766525]	Chr1:64866928 [GRCh38] Chr1:65332611 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1296C>T (p.Ile432=)	single nucleotide variant	not provided [RCV002954163]	Chr1:64860143 [GRCh38] Chr1:65325826 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1899+9C>T	single nucleotide variant	not provided [RCV002894115]	Chr1:64847523 [GRCh38] Chr1:65313206 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1437C>T (p.Val479=)	single nucleotide variant	not provided [RCV002918259]	Chr1:64857677 [GRCh38] Chr1:65323360 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2838A>G (p.Glu946=)	single nucleotide variant	not provided [RCV003023214]	Chr1:64839607 [GRCh38] Chr1:65305290 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2940G>A (p.Gln980=)	single nucleotide variant	not provided [RCV002632348]	Chr1:64838492 [GRCh38] Chr1:65304175 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.484-15C>T	single nucleotide variant	not provided [RCV002631194]	Chr1:64869489 [GRCh38] Chr1:65335172 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1434C>T (p.Thr478=)	single nucleotide variant	not provided [RCV002630235]	Chr1:64857680 [GRCh38] Chr1:65323363 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1907_1908delinsAT (p.Phe636Tyr)	indel	not provided [RCV002721294]	Chr1:64846728..64846729 [GRCh38] Chr1:65312411..65312412 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2181C>G (p.Ile727Met)	single nucleotide variant	not provided [RCV002599315]	Chr1:64844824 [GRCh38] Chr1:65310507 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3370-14C>T	single nucleotide variant	not provided [RCV003011608]	Chr1:64834671 [GRCh38] Chr1:65300354 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2473A>G (p.Thr825Ala)	single nucleotide variant	not provided [RCV002834745]	Chr1:64841532 [GRCh38] Chr1:65307215 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.789G>A (p.Thr263=)	single nucleotide variant	not provided [RCV002577158]	Chr1:64867067 [GRCh38] Chr1:65332750 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1584G>C (p.Lys528Asn)	single nucleotide variant	not provided [RCV003009109]	Chr1:64855573 [GRCh38] Chr1:65321256 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1517G>A (p.Arg506His)	single nucleotide variant	not provided [RCV002577735]	Chr1:64855640 [GRCh38] Chr1:65321323 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1755+19G>T	single nucleotide variant	not provided [RCV002746001]	Chr1:64850785 [GRCh38] Chr1:65316468 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2715G>A (p.Val905=)	single nucleotide variant	not provided [RCV003047295]	Chr1:64839730 [GRCh38] Chr1:65305413 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1911G>A (p.Glu637=)	single nucleotide variant	not provided [RCV002715112]	Chr1:64846725 [GRCh38] Chr1:65312408 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1411G>A (p.Asp471Asn)	single nucleotide variant	not provided [RCV002770240]	Chr1:64857703 [GRCh38] Chr1:65323386 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1658A>G (p.Asn553Ser)	single nucleotide variant	not provided [RCV002922197]	Chr1:64850901 [GRCh38] Chr1:65316584 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3345G>T (p.Pro1115=)	single nucleotide variant	not provided [RCV003061934]	Chr1:64835420 [GRCh38] Chr1:65301103 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2067A>G (p.Pro689=)	single nucleotide variant	not provided [RCV002770623]	Chr1:64845561 [GRCh38] Chr1:65311244 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1439C>T (p.Thr480Ile)	single nucleotide variant	not provided [RCV002714962]	Chr1:64857675 [GRCh38] Chr1:65323358 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1896C>T (p.Ser632=)	single nucleotide variant	not provided [RCV002580598]	Chr1:64847535 [GRCh38] Chr1:65313218 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3369+13C>T	single nucleotide variant	not provided [RCV002581095]	Chr1:64835383 [GRCh38] Chr1:65301066 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1536G>A (p.Ser512=)	single nucleotide variant	not provided [RCV002676271]	Chr1:64855621 [GRCh38] Chr1:65321304 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1828G>A (p.Gly610Arg)	single nucleotide variant	not provided [RCV003087224]	Chr1:64847603 [GRCh38] Chr1:65313286 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2581C>A (p.Pro861Thr)	single nucleotide variant	not provided [RCV002834336]	Chr1:64841313 [GRCh38] Chr1:65306996 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.330-3C>T	single nucleotide variant	not provided [RCV002807154]	Chr1:64873526 [GRCh38] Chr1:65339209 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1374C>T (p.Ser458=)	single nucleotide variant	not provided [RCV003009110]	Chr1:64857740 [GRCh38] Chr1:65323423 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1900-13T>C	single nucleotide variant	not provided [RCV003009552]	Chr1:64846749 [GRCh38] Chr1:65312432 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2854A>G (p.Ile952Val)	single nucleotide variant	not provided [RCV002942475]	Chr1:64838578 [GRCh38] Chr1:65304261 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.647+3A>G	single nucleotide variant	not provided [RCV002603875]	Chr1:64869308 [GRCh38] Chr1:65334991 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2622C>T (p.Phe874=)	single nucleotide variant	not provided [RCV003032169]	Chr1:64841272 [GRCh38] Chr1:65306955 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2755A>G (p.Ile919Val)	single nucleotide variant	not provided [RCV002725324]	Chr1:64839690 [GRCh38] Chr1:65305373 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2251+9C>T	single nucleotide variant	JAK1-related disorder [RCV003926671]\|not provided [RCV003068796]	Chr1:64844745 [GRCh38] Chr1:65310428 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2968-17T>C	single nucleotide variant	not provided [RCV002725910]	Chr1:64838121 [GRCh38] Chr1:65303804 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1725C>T (p.Phe575=)	single nucleotide variant	not provided [RCV002605696]	Chr1:64850834 [GRCh38] Chr1:65316517 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.147G>A (p.Arg49=)	single nucleotide variant	not provided [RCV002610236]	Chr1:64883335 [GRCh38] Chr1:65349018 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.788C>T (p.Thr263Met)	single nucleotide variant	not provided [RCV003051381]	Chr1:64867068 [GRCh38] Chr1:65332751 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2T>C (p.Met1Thr)	single nucleotide variant	not provided [RCV003052156]	Chr1:64886263 [GRCh38] Chr1:65351946 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.227A>G (p.Asn76Ser)	single nucleotide variant	not provided [RCV002584710]	Chr1:64879127 [GRCh38] Chr1:65344810 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.65C>T (p.Ser22Phe)	single nucleotide variant	not provided [RCV002613013]	Chr1:64883417 [GRCh38] Chr1:65349100 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1988-6C>T	single nucleotide variant	not provided [RCV002584204]	Chr1:64845646 [GRCh38] Chr1:65311329 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2251+10C>G	single nucleotide variant	not provided [RCV002603986]	Chr1:64844744 [GRCh38] Chr1:65310427 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.911C>T (p.Ser304Leu)	single nucleotide variant	not provided [RCV002610623]	Chr1:64866945 [GRCh38] Chr1:65332628 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2218C>T (p.Pro740Ser)	single nucleotide variant	not provided [RCV002588200]	Chr1:64844787 [GRCh38] Chr1:65310470 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.32A>G (p.Asn11Ser)	single nucleotide variant	Inborn genetic diseases [RCV002612704]\|not provided [RCV002612703]	Chr1:64883450 [GRCh38] Chr1:65349133 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.410G>T (p.Gly137Val)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV003131290]	Chr1:64873443 [GRCh38] Chr1:65339126 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1649-82C>T	single nucleotide variant	not specified [RCV003397055]	Chr1:64850992 [GRCh38] Chr1:65316675 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.439A>G (p.Thr147Ala)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV003333312]	Chr1:64873414 [GRCh38] Chr1:65339097 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2309T>C (p.Leu770Pro)	single nucleotide variant	Inborn genetic diseases [RCV003374937]	Chr1:64844158 [GRCh38] Chr1:65309841 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2520C>T (p.Ala840=)	single nucleotide variant	not provided [RCV003543394]	Chr1:64841485 [GRCh38] Chr1:65307168 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1176+20T>C	single nucleotide variant	not provided [RCV003873063]	Chr1:64864767 [GRCh38] Chr1:65330450 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3231C>T (p.Tyr1077=)	single nucleotide variant	not provided [RCV003875260]	Chr1:64836125 [GRCh38] Chr1:65301808 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.689G>A (p.Arg230Lys)	single nucleotide variant	not provided [RCV003570907]	Chr1:64867167 [GRCh38] Chr1:65332850 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.330-8C>T	single nucleotide variant	not provided [RCV003874749]	Chr1:64873531 [GRCh38] Chr1:65339214 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.539A>C (p.Gln180Pro)	single nucleotide variant	not provided [RCV003571602]	Chr1:64869419 [GRCh38] Chr1:65335102 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1649-14A>G	single nucleotide variant	not provided [RCV003571374]	Chr1:64850924 [GRCh38] Chr1:65316607 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2675G>A (p.Cys892Tyr)	single nucleotide variant	not provided [RCV003686405]	Chr1:64839770 [GRCh38] Chr1:65305453 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1334+8C>T	single nucleotide variant	not provided [RCV003686226]	Chr1:64860097 [GRCh38] Chr1:65325780 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1695G>A (p.Gln565=)	single nucleotide variant	not provided [RCV003571161]	Chr1:64850864 [GRCh38] Chr1:65316547 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2404-125C>T	single nucleotide variant	not specified [RCV003391198]	Chr1:64841726 [GRCh38] Chr1:65307409 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.991-27C>T	single nucleotide variant	not specified [RCV003391214]	Chr1:64864999 [GRCh38] Chr1:65330682 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2650-44C>T	single nucleotide variant	not specified [RCV003397168]	Chr1:64839839 [GRCh38] Chr1:65305522 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1459-38C>T	single nucleotide variant	not specified [RCV003397145]	Chr1:64855736 [GRCh38] Chr1:65321419 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1177-25G>A	single nucleotide variant	not specified [RCV003391201]	Chr1:64860287 [GRCh38] Chr1:65325970 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1899+4A>G	single nucleotide variant	JAK1-related disorder [RCV003412049]	Chr1:64847528 [GRCh38] Chr1:65313211 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.242A>G (p.Tyr81Cys)	single nucleotide variant	JAK1-related disorder [RCV003399797]	Chr1:64879112 [GRCh38] Chr1:65344795 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2843-198T>G	single nucleotide variant	not specified [RCV003397158]	Chr1:64838787 [GRCh38] Chr1:65304470 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.3259-49T>C	single nucleotide variant	not specified [RCV003397157]	Chr1:64835555 [GRCh38] Chr1:65301238 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.1079G>A (p.Arg360Gln)	single nucleotide variant	JAK1-related disorder [RCV003427959]	Chr1:64864884 [GRCh38] Chr1:65330567 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.*3A>C	single nucleotide variant	JAK1-related disorder [RCV003399854]	Chr1:64834559 [GRCh38] Chr1:65300242 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2182G>A (p.Asp728Asn)	single nucleotide variant	not provided [RCV003406548]	Chr1:64844823 [GRCh38] Chr1:65310506 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2043G>A (p.Arg681=)	single nucleotide variant	not provided [RCV003831099]	Chr1:64845585 [GRCh38] Chr1:65311268 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.845G>C (p.Gly282Ala)	single nucleotide variant	not provided [RCV003826586]	Chr1:64867011 [GRCh38] Chr1:65332694 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.111A>G (p.Glu37=)	single nucleotide variant	not provided [RCV003740300]	Chr1:64883371 [GRCh38] Chr1:65349054 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2115+80C>G	single nucleotide variant	not specified [RCV003490289]	Chr1:64845433 [GRCh38] Chr1:65311116 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2115+79G>A	single nucleotide variant	not specified [RCV003490290]	Chr1:64845434 [GRCh38] Chr1:65311117 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2968-5C>T	single nucleotide variant	not provided [RCV003825252]	Chr1:64838109 [GRCh38] Chr1:65303792 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1176+13dup	duplication	not provided [RCV003576207]	Chr1:64864773..64864774 [GRCh38] Chr1:65330456..65330457 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.807A>G (p.Lys269=)	single nucleotide variant	not provided [RCV003849188]	Chr1:64867049 [GRCh38] Chr1:65332732 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1913C>T (p.Ala638Val)	single nucleotide variant	not provided [RCV003715477]	Chr1:64846723 [GRCh38] Chr1:65312406 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2367T>C (p.Asn789=)	single nucleotide variant	not provided [RCV003692776]	Chr1:64844100 [GRCh38] Chr1:65309783 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.312G>C (p.Arg104=)	single nucleotide variant	not provided [RCV003879656]	Chr1:64879042 [GRCh38] Chr1:65344725 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3034G>C (p.Glu1012Gln)	single nucleotide variant	not provided [RCV003545063]	Chr1:64838038 [GRCh38] Chr1:65303721 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1334+18A>T	single nucleotide variant	not provided [RCV003882193]	Chr1:64860087 [GRCh38] Chr1:65325770 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2679G>T (p.Arg893Ser)	single nucleotide variant	not provided [RCV003826502]	Chr1:64839766 [GRCh38] Chr1:65305449 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1923G>A (p.Met641Ile)	single nucleotide variant	not provided [RCV003686846]	Chr1:64846713 [GRCh38] Chr1:65312396 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3319A>T (p.Thr1107Ser)	single nucleotide variant	not provided [RCV003660031]	Chr1:64835446 [GRCh38] Chr1:65301129 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.676A>T (p.Asn226Tyr)	single nucleotide variant	not provided [RCV003687861]	Chr1:64867180 [GRCh38] Chr1:65332863 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2116-9A>G	single nucleotide variant	not provided [RCV003577064]	Chr1:64844898 [GRCh38] Chr1:65310581 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.543T>C (p.Asp181=)	single nucleotide variant	not provided [RCV003660167]	Chr1:64869415 [GRCh38] Chr1:65335098 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.359A>G (p.Asn120Ser)	single nucleotide variant	not provided [RCV003691137]	Chr1:64873494 [GRCh38] Chr1:65339177 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1036C>A (p.Leu346Met)	single nucleotide variant	not provided [RCV003715199]	Chr1:64864927 [GRCh38] Chr1:65330610 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3369+4T>C	single nucleotide variant	not provided [RCV003663319]	Chr1:64835392 [GRCh38] Chr1:65301075 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.206-13del	deletion	not provided [RCV003691656]	Chr1:64879161 [GRCh38] Chr1:65344844 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.468G>C (p.Glu156Asp)	single nucleotide variant	not provided [RCV003575358]	Chr1:64873385 [GRCh38] Chr1:65339068 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.279C>T (p.Arg93=)	single nucleotide variant	not provided [RCV003882402]	Chr1:64879075 [GRCh38] Chr1:65344758 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2697C>G (p.Asp899Glu)	single nucleotide variant	not provided [RCV003574089]	Chr1:64839748 [GRCh38] Chr1:65305431 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2118G>A (p.Glu706=)	single nucleotide variant	not provided [RCV003690045]	Chr1:64844887 [GRCh38] Chr1:65310570 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3258+112G>T	single nucleotide variant	not specified [RCV003490387]	Chr1:64835986 [GRCh38] Chr1:65301669 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.2850T>C (p.Asn950=)	single nucleotide variant	not provided [RCV003661645]	Chr1:64838582 [GRCh38] Chr1:65304265 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2390A>G (p.Lys797Arg)	single nucleotide variant	not provided [RCV003661594]	Chr1:64844077 [GRCh38] Chr1:65309760 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1972G>A (p.Val658Ile)	single nucleotide variant	not provided [RCV003689394]	Chr1:64846664 [GRCh38] Chr1:65312347 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3258+11C>G	single nucleotide variant	not provided [RCV003827404]	Chr1:64836087 [GRCh38] Chr1:65301770 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2483T>C (p.Met828Thr)	single nucleotide variant	not provided [RCV003663506]	Chr1:64841522 [GRCh38] Chr1:65307205 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.6+13G>A	single nucleotide variant	not provided [RCV003687642]	Chr1:64886246 [GRCh38] Chr1:65351929 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2217C>A (p.Asp739Glu)	single nucleotide variant	not provided [RCV003828302]	Chr1:64844788 [GRCh38] Chr1:65310471 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.861G>T (p.Glu287Asp)	single nucleotide variant	not provided [RCV003544206]	Chr1:64866995 [GRCh38] Chr1:65332678 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.6+46A>G	single nucleotide variant	not specified [RCV003489206]	Chr1:64886213 [GRCh38] Chr1:65351896 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.336T>C (p.Tyr112=)	single nucleotide variant	not provided [RCV003572032]	Chr1:64873517 [GRCh38] Chr1:65339200 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1889A>G (p.Asp630Gly)	single nucleotide variant	not provided [RCV003833750]	Chr1:64847542 [GRCh38] Chr1:65313225 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2251+3G>A	single nucleotide variant	not provided [RCV003834090]	Chr1:64844751 [GRCh38] Chr1:65310434 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3068G>A (p.Gly1023Asp)	single nucleotide variant	not provided [RCV003699191]	Chr1:64838004 [GRCh38] Chr1:65303687 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2533A>G (p.Ile845Val)	single nucleotide variant	not provided [RCV003665718]	Chr1:64841472 [GRCh38] Chr1:65307155 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.175G>C (p.Glu59Gln)	single nucleotide variant	not provided [RCV003548395]	Chr1:64883307 [GRCh38] Chr1:65348990 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.234T>C (p.Phe78=)	single nucleotide variant	not provided [RCV003810747]	Chr1:64879120 [GRCh38] Chr1:65344803 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.985C>A (p.Pro329Thr)	single nucleotide variant	not provided [RCV003852115]	Chr1:64866871 [GRCh38] Chr1:65332554 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1190C>T (p.Ser397Phe)	single nucleotide variant	not provided [RCV003703467]	Chr1:64860249 [GRCh38] Chr1:65325932 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1500C>T (p.Ile500=)	single nucleotide variant	not provided [RCV003558340]	Chr1:64855657 [GRCh38] Chr1:65321340 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1344C>T (p.Tyr448=)	single nucleotide variant	not provided [RCV003837952]	Chr1:64857770 [GRCh38] Chr1:65323453 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2967+19A>G	single nucleotide variant	not provided [RCV003812236]	Chr1:64838446 [GRCh38] Chr1:65304129 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.386A>G (p.His129Arg)	single nucleotide variant	not provided [RCV003674280]	Chr1:64873467 [GRCh38] Chr1:65339150 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2555-13T>C	single nucleotide variant	not provided [RCV003667391]	Chr1:64841352 [GRCh38] Chr1:65307035 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3355A>G (p.Asn1119Asp)	single nucleotide variant	not provided [RCV003580844]	Chr1:64835410 [GRCh38] Chr1:65301093 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2635C>T (p.Arg879Cys)	single nucleotide variant	not provided [RCV003673233]	Chr1:64841259 [GRCh38] Chr1:65306942 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.153C>G (p.Gly51=)	single nucleotide variant	not provided [RCV003816963]	Chr1:64883329 [GRCh38] Chr1:65349012 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.205C>G (p.Arg69Gly)	single nucleotide variant	not provided [RCV003836304]	Chr1:64883277 [GRCh38] Chr1:65348960 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.813G>A (p.Leu271=)	single nucleotide variant	not provided [RCV003836432]	Chr1:64867043 [GRCh38] Chr1:65332726 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2205C>T (p.Ile735=)	single nucleotide variant	not provided [RCV003670089]	Chr1:64844800 [GRCh38] Chr1:65310483 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2232T>A (p.Ile744=)	single nucleotide variant	not provided [RCV003703355]	Chr1:64844773 [GRCh38] Chr1:65310456 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2882C>T (p.Ser961Leu)	single nucleotide variant	not provided [RCV003837732]	Chr1:64838550 [GRCh38] Chr1:65304233 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3370-15T>C	single nucleotide variant	not provided [RCV003811954]	Chr1:64834672 [GRCh38] Chr1:65300355 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.147G>T (p.Arg49=)	single nucleotide variant	not provided [RCV003724045]	Chr1:64883335 [GRCh38] Chr1:65349018 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.934T>C (p.Tyr312His)	single nucleotide variant	not provided [RCV003725522]	Chr1:64866922 [GRCh38] Chr1:65332605 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.7-4A>G	single nucleotide variant	not provided [RCV003856251]	Chr1:64883479 [GRCh38] Chr1:65349162 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2650-15C>G	single nucleotide variant	not provided [RCV003667742]	Chr1:64839810 [GRCh38] Chr1:65305493 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1001T>C (p.Val334Ala)	single nucleotide variant	not provided [RCV003811026]	Chr1:64864962 [GRCh38] Chr1:65330645 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1550C>T (p.Pro517Leu)	single nucleotide variant	not provided [RCV003723525]	Chr1:64855607 [GRCh38] Chr1:65321290 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2967+16A>G	single nucleotide variant	not provided [RCV003673693]	Chr1:64838449 [GRCh38] Chr1:65304132 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1334+14C>G	single nucleotide variant	not provided [RCV003817613]	Chr1:64860091 [GRCh38] Chr1:65325774 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.484-12C>T	single nucleotide variant	not provided [RCV003851314]	Chr1:64869486 [GRCh38] Chr1:65335169 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1429A>G (p.Met477Val)	single nucleotide variant	not provided [RCV003696829]	Chr1:64857685 [GRCh38] Chr1:65323368 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1284C>G (p.Ala428=)	single nucleotide variant	not provided [RCV003701494]	Chr1:64860155 [GRCh38] Chr1:65325838 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1447G>C (p.Glu483Gln)	single nucleotide variant	not provided [RCV003696914]	Chr1:64857667 [GRCh38] Chr1:65323350 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1459-10dup	duplication	not provided [RCV003580262]	Chr1:64855707..64855708 [GRCh38] Chr1:65321390..65321391 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.245A>G (p.Asp82Gly)	single nucleotide variant	not provided [RCV003671795]	Chr1:64879109 [GRCh38] Chr1:65344792 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2650-7C>T	single nucleotide variant	not provided [RCV003549760]	Chr1:64839802 [GRCh38] Chr1:65305485 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2555-19T>C	single nucleotide variant	not provided [RCV003813789]	Chr1:64841358 [GRCh38] Chr1:65307041 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3182C>T (p.Ala1061Val)	single nucleotide variant	not provided [RCV003671242]	Chr1:64836174 [GRCh38] Chr1:65301857 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2251+4T>C	single nucleotide variant	not provided [RCV003725451]	Chr1:64844750 [GRCh38] Chr1:65310433 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1779G>A (p.Thr593=)	single nucleotide variant	not provided [RCV003833680]	Chr1:64847652 [GRCh38] Chr1:65313335 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.493G>A (p.Asp165Asn)	single nucleotide variant	not provided [RCV003549579]	Chr1:64869465 [GRCh38] Chr1:65335148 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1900-15C>A	single nucleotide variant	not provided [RCV003816227]	Chr1:64846751 [GRCh38] Chr1:65312434 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1730G>A (p.Arg577Gln)	single nucleotide variant	not provided [RCV003667548]	Chr1:64850829 [GRCh38] Chr1:65316512 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.747G>A (p.Lys249=)	single nucleotide variant	not provided [RCV003700710]	Chr1:64867109 [GRCh38] Chr1:65332792 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2968-5C>G	single nucleotide variant	not provided [RCV003863812]	Chr1:64838109 [GRCh38] Chr1:65303792 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.330-7C>T	single nucleotide variant	not provided [RCV003732445]	Chr1:64873530 [GRCh38] Chr1:65339213 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2655C>T (p.His885=)	single nucleotide variant	not provided [RCV003865928]	Chr1:64839790 [GRCh38] Chr1:65305473 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2967+12dup	duplication	not provided [RCV003822531]	Chr1:64838452..64838453 [GRCh38] Chr1:65304135..65304136 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1148G>C (p.Ser383Thr)	single nucleotide variant	not provided [RCV003842178]	Chr1:64864815 [GRCh38] Chr1:65330498 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.729T>C (p.Val243=)	single nucleotide variant	not provided [RCV003676164]	Chr1:64867127 [GRCh38] Chr1:65332810 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1288C>T (p.Pro430Ser)	single nucleotide variant	not provided [RCV003728499]	Chr1:64860151 [GRCh38] Chr1:65325834 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2485A>G (p.Asn829Asp)	single nucleotide variant	not provided [RCV003733791]	Chr1:64841520 [GRCh38] Chr1:65307203 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.7-14T>A	single nucleotide variant	not provided [RCV003846048]	Chr1:64883489 [GRCh38] Chr1:65349172 [GRCh37] Chr1:1p31.3	benign
NM_002227.4(JAK1):c.867C>A (p.Ser289=)	single nucleotide variant	not provided [RCV003711247]	Chr1:64866989 [GRCh38] Chr1:65332672 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2763T>C (p.Asp921=)	single nucleotide variant	not provided [RCV003820339]	Chr1:64839682 [GRCh38] Chr1:65305365 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.206G>A (p.Arg69His)	single nucleotide variant	not provided [RCV003821731]	Chr1:64879148 [GRCh38] Chr1:65344831 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.991-15T>C	single nucleotide variant	not provided [RCV003670779]	Chr1:64864987 [GRCh38] Chr1:65330670 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2035A>C (p.Met679Leu)	single nucleotide variant	not provided [RCV003734856]	Chr1:64845593 [GRCh38] Chr1:65311276 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.611A>T (p.Lys204Met)	single nucleotide variant	not provided [RCV003860605]	Chr1:64869347 [GRCh38] Chr1:65335030 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2404-13C>T	single nucleotide variant	not provided [RCV003670819]	Chr1:64841614 [GRCh38] Chr1:65307297 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.329+3A>G	single nucleotide variant	not provided [RCV003843529]	Chr1:64879022 [GRCh38] Chr1:65344705 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.599A>G (p.Tyr200Cys)	single nucleotide variant	not provided [RCV003566773]	Chr1:64869359 [GRCh38] Chr1:65335042 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3066C>T (p.Phe1022=)	single nucleotide variant	not provided [RCV003730694]	Chr1:64838006 [GRCh38] Chr1:65303689 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2078A>G (p.Lys693Arg)	single nucleotide variant	not provided [RCV003709837]	Chr1:64845550 [GRCh38] Chr1:65311233 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1200G>A (p.Glu400=)	single nucleotide variant	not provided [RCV003859287]	Chr1:64860239 [GRCh38] Chr1:65325922 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2809A>T (p.Ile937Phe)	single nucleotide variant	not provided [RCV003542774]	Chr1:64839636 [GRCh38] Chr1:65305319 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1202A>T (p.Glu401Val)	single nucleotide variant	not provided [RCV003842403]	Chr1:64860237 [GRCh38] Chr1:65325920 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1649-5C>T	single nucleotide variant	not provided [RCV003853261]	Chr1:64850915 [GRCh38] Chr1:65316598 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.699C>T (p.Asn233=)	single nucleotide variant	not provided [RCV003706231]	Chr1:64867157 [GRCh38] Chr1:65332840 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.432A>G (p.Pro144=)	single nucleotide variant	not provided [RCV003707876]	Chr1:64873421 [GRCh38] Chr1:65339104 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1000G>C (p.Val334Leu)	single nucleotide variant	not provided [RCV003711044]	Chr1:64864963 [GRCh38] Chr1:65330646 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2404-14C>T	single nucleotide variant	not provided [RCV003846647]	Chr1:64841615 [GRCh38] Chr1:65307298 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2041C>T (p.Arg681Trp)	single nucleotide variant	not provided [RCV003566168]	Chr1:64845587 [GRCh38] Chr1:65311270 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.484-15C>A	single nucleotide variant	not provided [RCV003685345]	Chr1:64869489 [GRCh38] Chr1:65335172 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.310C>T (p.Arg104Trp)	single nucleotide variant	not provided [RCV003550449]	Chr1:64879044 [GRCh38] Chr1:65344727 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.399G>A (p.Lys133=)	single nucleotide variant	not provided [RCV003847380]	Chr1:64873454 [GRCh38] Chr1:65339137 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.882A>G (p.Ser294=)	single nucleotide variant	not provided [RCV003853441]	Chr1:64866974 [GRCh38] Chr1:65332657 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2809_2812del (p.Asn936_Ile937insTer)	deletion	not provided [RCV003552146]	Chr1:64839633..64839636 [GRCh38] Chr1:65305316..65305319 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2967+14A>G	single nucleotide variant	not provided [RCV003845295]	Chr1:64838451 [GRCh38] Chr1:65304134 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3348C>T (p.Cys1116=)	single nucleotide variant	not provided [RCV003865883]	Chr1:64835417 [GRCh38] Chr1:65301100 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1658A>C (p.Asn553Thr)	single nucleotide variant	not provided [RCV003821528]	Chr1:64850901 [GRCh38] Chr1:65316584 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1077C>T (p.Ile359=)	single nucleotide variant	not provided [RCV003737783]	Chr1:64864886 [GRCh38] Chr1:65330569 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.44T>C (p.Phe15Ser)	single nucleotide variant	not provided [RCV003846324]	Chr1:64883438 [GRCh38] Chr1:65349121 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2099G>A (p.Ser700Asn)	single nucleotide variant	Inborn genetic diseases [RCV004369538]\|not provided [RCV003868265]	Chr1:64845529 [GRCh38] Chr1:65311212 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.737A>G (p.Asp246Gly)	single nucleotide variant	not provided [RCV003706136]	Chr1:64867119 [GRCh38] Chr1:65332802 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.534C>T (p.Thr178=)	single nucleotide variant	not provided [RCV003737281]	Chr1:64869424 [GRCh38] Chr1:65335107 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.171A>G (p.Ala57=)	single nucleotide variant	not provided [RCV003841874]	Chr1:64883311 [GRCh38] Chr1:65348994 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.458G>C (p.Ser153Thr)	single nucleotide variant	not provided [RCV003684173]	Chr1:64873395 [GRCh38] Chr1:65339078 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2116-15C>T	single nucleotide variant	not provided [RCV003869638]	Chr1:64844904 [GRCh38] Chr1:65310587 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.3091G>A (p.Asp1031Asn)	single nucleotide variant	not provided [RCV003733594]	Chr1:64837981 [GRCh38] Chr1:65303664 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1649-16C>T	single nucleotide variant	not provided [RCV003867661]	Chr1:64850926 [GRCh38] Chr1:65316609 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1034A>G (p.Lys345Arg)	single nucleotide variant	not provided [RCV003867574]	Chr1:64864929 [GRCh38] Chr1:65330612 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.354A>G (p.Gly118=)	single nucleotide variant	JAK1-related disorder [RCV003892248]	Chr1:64873499 [GRCh38] Chr1:65339182 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.991-12G>T	single nucleotide variant	not provided [RCV003552566]	Chr1:64864984 [GRCh38] Chr1:65330667 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2923A>G (p.Ile975Val)	single nucleotide variant	not provided [RCV003862258]	Chr1:64838509 [GRCh38] Chr1:65304192 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1665G>A (p.Leu555=)	single nucleotide variant	not provided [RCV003721949]	Chr1:64850894 [GRCh38] Chr1:65316577 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.990+20C>T	single nucleotide variant	not provided [RCV003864707]	Chr1:64866846 [GRCh38] Chr1:65332529 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1648+4C>T	single nucleotide variant	not provided [RCV003865687]	Chr1:64855505 [GRCh38] Chr1:65321188 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2901T>C (p.Tyr967=)	single nucleotide variant	not provided [RCV003555543]	Chr1:64838531 [GRCh38] Chr1:65304214 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1525C>G (p.Leu509Val)	single nucleotide variant	not provided [RCV003555550]	Chr1:64855632 [GRCh38] Chr1:65321315 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1236C>T (p.Tyr412=)	single nucleotide variant	not provided [RCV003841782]	Chr1:64860203 [GRCh38] Chr1:65325886 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2555-7C>T	single nucleotide variant	not provided [RCV003680786]	Chr1:64841346 [GRCh38] Chr1:65307029 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1227A>G (p.Val409=)	single nucleotide variant	not provided [RCV003679574]	Chr1:64860212 [GRCh38] Chr1:65325895 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1832C>T (p.Thr611Ile)	single nucleotide variant	not provided [RCV003847756]	Chr1:64847599 [GRCh38] Chr1:65313282 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2998G>A (p.Val1000Ile)	single nucleotide variant	Inborn genetic diseases [RCV004371567]\|not provided [RCV003674622]	Chr1:64838074 [GRCh38] Chr1:65303757 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3005G>A (p.Arg1002Gln)	single nucleotide variant	not provided [RCV003562320]	Chr1:64838067 [GRCh38] Chr1:65303750 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1459-14C>T	single nucleotide variant	not provided [RCV003823749]	Chr1:64855712 [GRCh38] Chr1:65321395 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2403+5G>A	single nucleotide variant	not provided [RCV003823977]	Chr1:64844059 [GRCh38] Chr1:65309742 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.608T>C (p.Met203Thr)	single nucleotide variant	not provided [RCV003553245]	Chr1:64869350 [GRCh38] Chr1:65335033 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.750A>G (p.Glu250=)	single nucleotide variant	not provided [RCV003677462]	Chr1:64867106 [GRCh38] Chr1:65332789 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1606A>G (p.Ile536Val)	single nucleotide variant	not provided [RCV003732955]	Chr1:64855551 [GRCh38] Chr1:65321234 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.940G>A (p.Glu314Lys)	single nucleotide variant	Inborn genetic diseases [RCV004634309]\|not provided [RCV003676026]	Chr1:64866916 [GRCh38] Chr1:65332599 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2403+15C>G	single nucleotide variant	not provided [RCV003705362]	Chr1:64844049 [GRCh38] Chr1:65309732 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2554+12del	deletion	not provided [RCV003859069]	Chr1:64841439 [GRCh38] Chr1:65307122 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.1648+17C>T	single nucleotide variant	not provided [RCV003846979]	Chr1:64855492 [GRCh38] Chr1:65321175 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.631C>T (p.Leu211=)	single nucleotide variant	not provided [RCV003821650]	Chr1:64869327 [GRCh38] Chr1:65335010 [GRCh37] Chr1:1p31.3	likely benign
NM_002227.4(JAK1):c.2198C>T (p.Pro733Leu)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV003989141]	Chr1:64844807 [GRCh38] Chr1:65310490 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2042G>A (p.Arg681Gln)	single nucleotide variant	JAK1-related disorder [RCV003962194]	Chr1:64845586 [GRCh38] Chr1:65311269 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1445T>C (p.Phe482Ser)	single nucleotide variant	Inborn genetic diseases [RCV004401072]	Chr1:64857669 [GRCh38] Chr1:65323352 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3402C>G (p.Phe1134Leu)	single nucleotide variant	Inborn genetic diseases [RCV004401073]	Chr1:64834625 [GRCh38] Chr1:65300308 [GRCh37] Chr1:1p31.3	uncertain significance
NC_000001.10:g.(?_61548464)_(67861772_?)dup	duplication	PGM1-congenital disorder of glycosylation [RCV004584077]	Chr1:61548464..67861772 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.971A>G (p.Gln324Arg)	single nucleotide variant	Inborn genetic diseases [RCV004635707]	Chr1:64866885 [GRCh38] Chr1:65332568 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.398A>G (p.Lys133Arg)	single nucleotide variant	Inborn genetic diseases [RCV004635708]	Chr1:64873455 [GRCh38] Chr1:65339138 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2062A>G (p.Thr688Ala)	single nucleotide variant	Inborn genetic diseases [RCV004635709]	Chr1:64845566 [GRCh38] Chr1:65311249 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.3310C>A (p.Leu1104Ile)	single nucleotide variant	Inborn genetic diseases [RCV004635706]	Chr1:64835455 [GRCh38] Chr1:65301138 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2425C>T (p.Arg809Trp)	single nucleotide variant	Autoinflammation, immune dysregulation, and eosinophilia [RCV004689557]\|not provided [RCV004780749]	Chr1:64841580 [GRCh38] Chr1:65307263 [GRCh37] Chr1:1p31.3	likely pathogenic\|uncertain significance
NM_002227.4(JAK1):c.2702C>G (p.Thr901Arg)	single nucleotide variant	not provided [RCV004795040]	Chr1:64839743 [GRCh38] Chr1:65305426 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.2466C>G (p.Asp822Glu)	single nucleotide variant	not provided [RCV004778133]	Chr1:64841539 [GRCh38] Chr1:65307222 [GRCh37] Chr1:1p31.3	uncertain significance
NM_002227.4(JAK1):c.1771A>G (p.Arg591Gly)	single nucleotide variant	not provided [RCV004779656]	Chr1:64847660 [GRCh38] Chr1:65313343 [GRCh37] Chr1:1p31.3	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR20A	hsa-miR-20a-3p	Mirecords	external_info	{changed}	NA	20299512
MIR17	hsa-miR-17-5p	Mirtarbase	external_info	Luciferase reporter assay//Western blot	Functional MTI	20299512
MIR17	hsa-miR-17-5p	Mirecords	external_info	{changed}	NA	20299512

Predicted Target Of

	Summary Value
Count of predictions:	1876
Count of miRNA genes:	1003
Interacting mature miRNAs:	1202
Transcripts:	ENST00000342505, ENST00000465376, ENST00000467764, ENST00000471473, ENST00000481702, ENST00000494904
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597046423	GWAS1142497_H	C-reactive protein measurement QTL GWAS1142497 (human)		3e-09	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	1	64940573	64940574	Human
597347224	GWAS1443298_H	neuroimaging measurement QTL GWAS1443298 (human)		0.0000002	neuroimaging measurement		1	64837105	64837106	Human
597332639	GWAS1428713_H	neuroimaging measurement QTL GWAS1428713 (human)		0.000007	neuroimaging measurement		1	64863417	64863418	Human
597052049	GWAS1148123_H	multiple sclerosis QTL GWAS1148123 (human)		1e-15	multiple sclerosis		1	64963636	64963637	Human
597050014	GWAS1146088_H	brain connectivity measurement QTL GWAS1146088 (human)		3e-08	brain connectivity measurement		1	64949692	64949693	Human
597048221	GWAS1144295_H	autoimmune disease QTL GWAS1144295 (human)		0.0000001	autoimmune disease		1	64895266	64895267	Human
597279634	GWAS1375708_H	hypothyroidism QTL GWAS1375708 (human)		2e-08	hypothyroidism		1	64963636	64963637	Human
597282196	GWAS1378270_H	body height QTL GWAS1378270 (human)		2e-14	body height (VT:0001253)	body height (CMO:0000106)	1	64833288	64833289	Human
597050246	GWAS1146320_H	Eczematoid dermatitis QTL GWAS1146320 (human)		3e-10	Eczematoid dermatitis		1	64848529	64848530	Human
597252488	GWAS1348562_H	C-reactive protein measurement QTL GWAS1348562 (human)		1e-15	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	1	64905735	64905736	Human
597417864	GWAS1513938_H	lymphocyte count QTL GWAS1513938 (human)		1e-08	lymphocyte count	blood lymphocyte count (CMO:0000031)	1	64979859	64979860	Human
597194112	GWAS1290186_H	COVID-19 QTL GWAS1290186 (human)		3e-09	COVID-19		1	64948270	64948271	Human
407110495	GWAS759471_H	eosinophil count QTL GWAS759471 (human)		1e-17	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64848529	64848530	Human
597218437	GWAS1314511_H	body height QTL GWAS1314511 (human)		2e-59	body height (VT:0001253)	body height (CMO:0000106)	1	64833288	64833289	Human
597163144	GWAS1259218_H	nucleotide measurement QTL GWAS1259218 (human)		0.000006	nucleotide metabolism trait (VT:0003806)		1	64837827	64837828	Human
597424058	GWAS1520132_H	eosinophil count QTL GWAS1520132 (human)		1e-19	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64970559	64970560	Human
597332920	GWAS1428994_H	neuroimaging measurement QTL GWAS1428994 (human)		0.000004	neuroimaging measurement		1	64842311	64842312	Human
597054130	GWAS1150204_H	eosinophil count QTL GWAS1150204 (human)		9e-19	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64848529	64848530	Human
407110496	GWAS759472_H	eosinophil count QTL GWAS759472 (human)		3e-21	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64905735	64905736	Human
597193660	GWAS1289734_H	COVID-19 QTL GWAS1289734 (human)		5e-11	COVID-19		1	64948270	64948271	Human
597054131	GWAS1150205_H	eosinophil count QTL GWAS1150205 (human)		6e-27	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64957764	64957765	Human
597587387	GWAS1644247_H	eosinophil count QTL GWAS1644247 (human)		4e-28	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
407022181	GWAS671157_H	platelet count QTL GWAS671157 (human)		1e-11	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	1	64840194	64840195	Human
597332919	GWAS1428993_H	neuroimaging measurement QTL GWAS1428993 (human)		0.000009	neuroimaging measurement		1	64881358	64881359	Human
597350571	GWAS1446645_H	neuroimaging measurement QTL GWAS1446645 (human)		0.000003	neuroimaging measurement		1	64849615	64849616	Human
597209514	GWAS1305588_H	neuroimaging measurement QTL GWAS1305588 (human)		3e-16	neuroimaging measurement		1	64843717	64843718	Human
407041392	GWAS690368_H	sitting height ratio QTL GWAS690368 (human)		0.000005	sitting height ratio		1	64946454	64946455	Human
597392808	GWAS1488882_H	eosinophil percentage of leukocytes QTL GWAS1488882 (human)		2e-15	eosinophil percentage of leukocytes	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	1	64982109	64982110	Human
597430696	GWAS1526770_H	cognitive function measurement QTL GWAS1526770 (human)		0.000009	cognitive function measurement		1	65060218	65060219	Human
597095073	GWAS1191147_H	diabetic nephropathy QTL GWAS1191147 (human)		0.0000003	kidney integrity trait (VT:0010580)		1	64863417	64863418	Human
597588132	GWAS1644992_H	eosinophil count QTL GWAS1644992 (human)		8e-16	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64953821	64953822	Human
597283492	GWAS1379566_H	eosinophil count QTL GWAS1379566 (human)		2e-20	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
596979370	GWAS1098889_H	hypothyroidism QTL GWAS1098889 (human)		2e-08	hypothyroidism		1	64963636	64963637	Human
597048023	GWAS1144097_H	leukocyte count QTL GWAS1144097 (human)		7e-10	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	1	64947147	64947148	Human
597282780	GWAS1378854_H	COVID-19 QTL GWAS1378854 (human)		8e-10	COVID-19		1	64947147	64947148	Human
597247696	GWAS1343770_H	IGF-1 measurement QTL GWAS1343770 (human)		1e-09	IGF-1 measurement	blood insulin-like growth factor 1 level (CMO:0001297)	1	64905735	64905736	Human
597385170	GWAS1481244_H	hypothyroidism QTL GWAS1481244 (human)		2e-08	hypothyroidism		1	64969742	64969743	Human
597537495	GWAS1633569_H	body height QTL GWAS1633569 (human)		2e-14	body height (VT:0001253)	body height (CMO:0000106)	1	64998526	64998527	Human
597587921	GWAS1644781_H	eosinophil count QTL GWAS1644781 (human)		2e-29	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
406964753	GWAS613729_H	neutrophil percentage of granulocytes QTL GWAS613729 (human)		1e-12	neutrophil percentage of granulocytes		1	64957764	64957765	Human
597359307	GWAS1455381_H	acute myeloid leukemia QTL GWAS1455381 (human)		2e-12	leukocyte integrity trait (VT:0010898)		1	64883861	64883862	Human
597336520	GWAS1432594_H	C-reactive protein measurement QTL GWAS1432594 (human)		7e-19	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	1	64939387	64939388	Human
597333961	GWAS1430035_H	neuroimaging measurement QTL GWAS1430035 (human)		0.000005	neuroimaging measurement		1	64849615	64849616	Human
597168076	GWAS1264150_H	brain measurement QTL GWAS1264150 (human)		4e-25	brain measurement	brain measurement (CMO:0000911)	1	64865689	64865690	Human
407306256	GWAS955232_H	lymphocyte count QTL GWAS955232 (human)		8e-20	lymphocyte count	blood lymphocyte count (CMO:0000031)	1	64962849	64962850	Human
597594564	GWAS1651424_H	eosinophil count QTL GWAS1651424 (human)		1e-13	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
597290690	GWAS1386764_H	size QTL GWAS1386764 (human)		7e-11	size		1	64833288	64833289	Human
2314561	GLUCO47_H	Glucose level QTL 47 (human)	1.1		Glucose level		1	44773360	70773360	Human
1578620	LDLPS20_H	Low density lipoprotein particle size QTL 21 (human)	2.04	0.00046	LDL particle size		1	52531105	78531105	Human
597609976	GWAS1666836_H	monocyte count QTL GWAS1666836 (human)		1e-11	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	1	64957179	64957180	Human
597055216	GWAS1151290_H	eosinophil percentage of leukocytes QTL GWAS1151290 (human)		5e-36	eosinophil percentage of leukocytes	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	1	64957764	64957765	Human
406993957	GWAS642933_H	body height QTL GWAS642933 (human)		1e-22	body height (VT:0001253)	body height (CMO:0000106)	1	64833288	64833289	Human
1578602	LDLPS21_H	Low density lipoprotein particle size QTL 21 (human)	2.05	0.00037	LDL particle size		1	52531105	78531105	Human
597055215	GWAS1151289_H	eosinophil percentage of leukocytes QTL GWAS1151289 (human)		4e-15	eosinophil percentage of leukocytes	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	1	64848529	64848530	Human
597116654	GWAS1212728_H	C-reactive protein measurement QTL GWAS1212728 (human)		3e-19	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	1	64855622	64855623	Human
597103086	GWAS1199160_H	platelet count QTL GWAS1199160 (human)		2e-10	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	1	64863539	64863540	Human
1578594	LDLPS19_H	Low density lipoprotein particle size QTL 19 (human)	2.56	0.00009	LDL particle size		1	52531105	78531105	Human
597236707	GWAS1332781_H	appendicular lean mass QTL GWAS1332781 (human)		3e-25	appendicular lean mass		1	64833288	64833289	Human
597209062	GWAS1305136_H	neuroimaging measurement QTL GWAS1305136 (human)		5e-12	neuroimaging measurement		1	64842311	64842312	Human
597210648	GWAS1306722_H	neuroimaging measurement QTL GWAS1306722 (human)		1e-11	neuroimaging measurement		1	64842311	64842312	Human
597589022	GWAS1645882_H	monocyte count QTL GWAS1645882 (human)		2e-18	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	1	64930671	64930672	Human
597586716	GWAS1643576_H	eosinophil count QTL GWAS1643576 (human)		1e-19	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
597596696	GWAS1653556_H	eosinophil count QTL GWAS1653556 (human)		7e-16	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64970559	64970560	Human
597205520	GWAS1301594_H	neuroimaging measurement QTL GWAS1301594 (human)		9e-12	neuroimaging measurement		1	64842311	64842312	Human
597081887	GWAS1177961_H	autoimmune thyroid disease QTL GWAS1177961 (human)		5e-10	autoimmune thyroid disease		1	64963636	64963637	Human
597114909	GWAS1210983_H	C-reactive protein measurement QTL GWAS1210983 (human)		2e-12	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	1	64846685	64846686	Human
597596690	GWAS1653550_H	eosinophil count QTL GWAS1653550 (human)		3e-18	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64970559	64970560	Human
597376532	GWAS1472606_H	lymphocyte count QTL GWAS1472606 (human)		5e-15	lymphocyte count	blood lymphocyte count (CMO:0000031)	1	64979859	64979860	Human
597205516	GWAS1301590_H	neuroimaging measurement QTL GWAS1301590 (human)		5e-15	neuroimaging measurement		1	64843717	64843718	Human
597204749	GWAS1300823_H	neuroimaging measurement QTL GWAS1300823 (human)		3e-13	neuroimaging measurement		1	64842311	64842312	Human
596951809	GWAS1071328_H	COVID-19 QTL GWAS1071328 (human)		8e-10	COVID-19		1	64947147	64947148	Human
597221120	GWAS1317194_H	alkaline phosphatase measurement QTL GWAS1317194 (human)		6e-11	alkaline phosphatase measurement	blood alkaline phosphatase activity level (CMO:0000576)	1	64905735	64905736	Human
597400383	GWAS1496457_H	platelet crit QTL GWAS1496457 (human)		5e-10	platelet crit	plateletcrit (CMO:0001349)	1	64875134	64875135	Human
406969572	GWAS618548_H	eosinophil percentage of leukocytes QTL GWAS618548 (human)		3e-16	eosinophil percentage of leukocytes	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	1	64957764	64957765	Human
597208895	GWAS1304969_H	neuroimaging measurement QTL GWAS1304969 (human)		2e-11	neuroimaging measurement		1	64842311	64842312	Human
597111099	GWAS1207173_H	Thyroid preparation use measurement QTL GWAS1207173 (human)		1e-09	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
597366325	GWAS1462399_H	eosinophil count QTL GWAS1462399 (human)		1e-29	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	65006640	65006641	Human
597589295	GWAS1646155_H	monocyte count QTL GWAS1646155 (human)		3e-12	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	1	64930671	64930672	Human
597371434	GWAS1467508_H	estradiol measurement QTL GWAS1467508 (human)		0.000001	estradiol measurement	blood estradiol level (CMO:0000513)	1	65049850	65049851	Human
597057568	GWAS1153642_H	eosinophil count QTL GWAS1153642 (human)		2e-36	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64957764	64957765	Human
597435171	GWAS1531245_H	glycerophosphorylcholine measurement QTL GWAS1531245 (human)		0.000004	glycerophosphorylcholine measurement		1	64973883	64973884	Human
597203034	GWAS1299108_H	neuroimaging measurement QTL GWAS1299108 (human)		2e-13	neuroimaging measurement		1	64863417	64863418	Human
597281873	GWAS1377947_H	hypothyroidism QTL GWAS1377947 (human)		4e-12	hypothyroidism		1	64905735	64905736	Human
597263184	GWAS1359258_H	eosinophil count QTL GWAS1359258 (human)		9e-14	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64957764	64957765	Human
597210454	GWAS1306528_H	neuroimaging measurement QTL GWAS1306528 (human)		6e-12	neuroimaging measurement		1	64865689	64865690	Human
597205320	GWAS1301394_H	neuroimaging measurement QTL GWAS1301394 (human)		7e-11	neuroimaging measurement		1	64843717	64843718	Human
597594958	GWAS1651818_H	eosinophil count QTL GWAS1651818 (human)		4e-13	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
597205322	GWAS1301396_H	neuroimaging measurement QTL GWAS1301396 (human)		2e-15	neuroimaging measurement		1	64843717	64843718	Human
406954900	GWAS603876_H	eosinophil count QTL GWAS603876 (human)		6e-14	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64957764	64957765	Human
596953922	GWAS1073441_H	size QTL GWAS1073441 (human)		7e-11	size		1	64833288	64833289	Human
406964119	GWAS613095_H	basophil count, eosinophil count QTL GWAS613095 (human)		9e-11	eosinophil quantity (VT:0002602)	blood granulocyte count (CMO:0000111)	1	64957764	64957765	Human
406964118	GWAS613094_H	basophil count, eosinophil count QTL GWAS613094 (human)		3e-11	eosinophil quantity (VT:0002602)	blood granulocyte count (CMO:0000111)	1	64848529	64848530	Human
597587526	GWAS1644386_H	eosinophil count QTL GWAS1644386 (human)		5e-15	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64893151	64893152	Human
597248321	GWAS1344395_H	response to bevacizumab, Proteinuria QTL GWAS1344395 (human)		0.000009	response to bevacizumab, Proteinuria		1	64905735	64905736	Human
597209666	GWAS1305740_H	neuroimaging measurement QTL GWAS1305740 (human)		5e-14	neuroimaging measurement		1	64842311	64842312	Human
597209667	GWAS1305741_H	neuroimaging measurement QTL GWAS1305741 (human)		3e-10	neuroimaging measurement		1	64865689	64865690	Human
597586555	GWAS1643415_H	eosinophil count QTL GWAS1643415 (human)		5e-22	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64970559	64970560	Human
406966700	GWAS615676_H	eosinophil percentage of granulocytes QTL GWAS615676 (human)		7e-15	eosinophil percentage of granulocytes		1	64957764	64957765	Human
407250347	GWAS899323_H	lymphocyte count QTL GWAS899323 (human)		9e-18	lymphocyte count	blood lymphocyte count (CMO:0000031)	1	64962849	64962850	Human
597594995	GWAS1651855_H	eosinophil count QTL GWAS1651855 (human)		7e-13	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64963636	64963637	Human
597253495	GWAS1349569_H	alkaline phosphatase measurement QTL GWAS1349569 (human)		2e-14	alkaline phosphatase measurement	blood alkaline phosphatase activity level (CMO:0000576)	1	64905735	64905736	Human
597601905	GWAS1658765_H	monocyte count QTL GWAS1658765 (human)		3e-15	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	1	64957179	64957180	Human
597602673	GWAS1659533_H	monocyte count QTL GWAS1659533 (human)		2e-22	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	1	64957179	64957180	Human
597017978	GWAS1114052_H	eosinophil count QTL GWAS1114052 (human)		2e-34	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	64970559	64970560	Human
597089122	GWAS1185196_H	monocyte percentage of leukocytes QTL GWAS1185196 (human)		8e-15	monocyte percentage of leukocytes	blood monocyte count to total leukocyte count ratio (CMO:0000374)	1	64957179	64957180	Human
597205856	GWAS1301930_H	neuroimaging measurement QTL GWAS1301930 (human)		5e-13	neuroimaging measurement		1	64863417	64863418	Human
597602915	GWAS1659775_H	monocyte count QTL GWAS1659775 (human)		1e-14	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	1	64957179	64957180	Human

Markers in Region

D1S2825

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,326,418 - 65,326,703	UniSTS	GRCh37
GRCh37	1	65,326,418 - 65,326,583	UniSTS	GRCh37
Build 36	1	65,099,006 - 65,099,171	RGD	NCBI36
Celera	1	63,617,305 - 63,617,590	UniSTS
Celera	1	63,617,305 - 63,617,470	RGD
HuRef	1	63,435,315 - 63,435,496	UniSTS
HuRef	1	63,435,315 - 63,435,616	UniSTS
Marshfield Genetic Map	1	98.21	RGD
Marshfield Genetic Map	1	98.21	UniSTS
Genethon Genetic Map	1	100.9	UniSTS
TNG Radiation Hybrid Map	1	36901.0	UniSTS
Whitehead-YAC Contig Map	1		UniSTS

SHGC-74955

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,298,636 - 65,298,764	UniSTS	GRCh37
Build 36	1	65,071,224 - 65,071,352	RGD	NCBI36
Celera	1	63,589,522 - 63,589,650	RGD
Cytogenetic Map	1	p32.3-p31.3	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
HuRef	1	63,407,545 - 63,407,673	UniSTS
TNG Radiation Hybrid Map	1	36888.0	UniSTS
GeneMap99-GB4 RH Map	1	174.74	UniSTS

AL033825

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,359,425 - 65,359,532	UniSTS	GRCh37
Build 36	1	65,132,013 - 65,132,120	RGD	NCBI36
Celera	1	63,650,308 - 63,650,415	RGD
Cytogenetic Map	1	p32.3-p31.3	UniSTS
HuRef	1	63,468,305 - 63,468,412	UniSTS

AL034288

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,414,287 - 65,414,420	UniSTS	GRCh37
Build 36	1	65,186,875 - 65,187,008	RGD	NCBI36
Celera	1	63,705,185 - 63,705,318	RGD
Cytogenetic Map	1	p32.3-p31.3	UniSTS
HuRef	1	63,523,220 - 63,523,353	UniSTS

RH123697

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,344,499 - 65,344,782	UniSTS	GRCh37
Build 36	1	65,117,087 - 65,117,370	RGD	NCBI36
Celera	1	63,635,382 - 63,635,665	RGD
Cytogenetic Map	1	p32.3-p31.3	UniSTS
HuRef	1	63,453,379 - 63,453,662	UniSTS
TNG Radiation Hybrid Map	1	36905.0	UniSTS

SHGC-74942

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,299,025 - 65,299,150	UniSTS	GRCh37
Build 36	1	65,071,613 - 65,071,738	RGD	NCBI36
Celera	1	63,589,911 - 63,590,036	RGD
Cytogenetic Map	1	p32.3-p31.3	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
HuRef	1	63,407,934 - 63,408,059	UniSTS
TNG Radiation Hybrid Map	1	36882.0	UniSTS
GeneMap99-GB4 RH Map	1	174.11	UniSTS

SHGC-74938

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,300,129 - 65,300,278	UniSTS	GRCh37
Build 36	1	65,072,717 - 65,072,866	RGD	NCBI36
Celera	1	63,591,015 - 63,591,164	RGD
Cytogenetic Map	1	p32.3-p31.3	UniSTS
HuRef	1	63,409,042 - 63,409,191	UniSTS
TNG Radiation Hybrid Map	1	36891.0	UniSTS
GeneMap99-GB4 RH Map	1	173.9	UniSTS

G22293

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	65,299,585 - 65,299,709	UniSTS	GRCh37
Build 36	1	65,072,173 - 65,072,297	RGD	NCBI36
Celera	1	63,590,471 - 63,590,595	RGD
Cytogenetic Map	1	p32.3-p31.3	UniSTS
HuRef	1	63,408,498 - 63,408,622	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2438	2788	2252	4972	1726	2351	6	624	1949	465	2269	7304	6471	53	3733	1	852	1743	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_023402	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321852	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002227	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419676	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419677	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054336426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054336427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054336428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB219242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL590436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL606517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC023604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC132729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX647675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC002094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HQ628631	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC876867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC876881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF495968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M64174	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000342505 ⟹ ENSP00000343204

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,229 - 64,966,549 (-)	Ensembl

Ensembl Acc Id:

ENST00000465376

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,223 - 64,848,164 (-)	Ensembl

Ensembl Acc Id:

ENST00000471473

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,844,096 - 64,846,909 (-)	Ensembl

Ensembl Acc Id:

ENST00000481702

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,839,496 - 64,841,258 (-)	Ensembl

Ensembl Acc Id:

ENST00000494904

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,859,642 - 64,864,856 (-)	Ensembl

Ensembl Acc Id:

ENST00000671746 ⟹ ENSP00000500065

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,549 (-)	Ensembl

Ensembl Acc Id:

ENST00000671929 ⟹ ENSP00000500485

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,284 (-)	Ensembl

Ensembl Acc Id:

ENST00000671954 ⟹ ENSP00000500841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 65,067,731 (-)	Ensembl

Ensembl Acc Id:

ENST00000672099 ⟹ ENSP00000500328

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,873,458 - 65,067,729 (-)	Ensembl

Ensembl Acc Id:

ENST00000672179 ⟹ ENSP00000500296

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,919 (-)	Ensembl

Ensembl Acc Id:

ENST00000672247 ⟹ ENSP00000499884

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,547 (-)	Ensembl

Ensembl Acc Id:

ENST00000672434 ⟹ ENSP00000499900

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 65,067,732 (-)	Ensembl

Ensembl Acc Id:

ENST00000672574 ⟹ ENSP00000500714

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,235 - 64,966,569 (-)	Ensembl

Ensembl Acc Id:

ENST00000672751 ⟹ ENSP00000500745

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 65,067,754 (-)	Ensembl

Ensembl Acc Id:

ENST00000672903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,867,100 - 64,869,408 (-)	Ensembl

Ensembl Acc Id:

ENST00000673046 ⟹ ENSP00000500878

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,243 - 64,966,370 (-)	Ensembl

Ensembl Acc Id:

ENST00000673220 ⟹ ENSP00000500422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,343 - 64,966,552 (-)	Ensembl

Ensembl Acc Id:

ENST00000673246 ⟹ ENSP00000499942

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,551 (-)	Ensembl

Ensembl Acc Id:

ENST00000673254 ⟹ ENSP00000500476

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,262 - 64,966,552 (-)	Ensembl

Ensembl Acc Id:

ENST00000673314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,235 - 64,966,564 (-)	Ensembl

Ensembl Acc Id:

ENST00000673502 ⟹ ENSP00000500011

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,235 - 65,067,746 (-)	Ensembl

Ensembl Acc Id:

ENST00000699259 ⟹ ENSP00000514240

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,552 (-)	Ensembl

Ensembl Acc Id:

ENST00000699260 ⟹ ENSP00000514241

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,569 (-)	Ensembl

Ensembl Acc Id:

ENST00000699261 ⟹ ENSP00000514242

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,235 - 64,966,564 (-)	Ensembl

Ensembl Acc Id:

ENST00000699262 ⟹ ENSP00000514243

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,834,075 - 64,966,936 (-)	Ensembl

Ensembl Acc Id:

ENST00000699263 ⟹ ENSP00000514244

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,869,409 - 65,067,614 (-)	Ensembl

Ensembl Acc Id:

ENST00000699310 ⟹ ENSP00000514289

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,551 (-)	Ensembl

Ensembl Acc Id:

ENST00000699311 ⟹ ENSP00000514290

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 64,966,564 (-)	Ensembl

Ensembl Acc Id:

ENST00000699312 ⟹ ENSP00000514291

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,234 - 65,067,732 (-)	Ensembl

Ensembl Acc Id:

ENST00000699313 ⟹ ENSP00000514292

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,833,235 - 64,966,564 (-)	Ensembl

Ensembl Acc Id:

ENST00000699314 ⟹ ENSP00000514294

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	64,873,428 - 65,067,732 (-)	Ensembl

RefSeq Acc Id:

NM_001320923 ⟹ NP_001307852

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,966,936 (-)	NCBI
CHM1_1	1	65,415,253 - 65,548,930 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,844,932 (-)	NCBI

Sequence:

show sequence

AGAAGCGGAGCGTATACGGAGGAGGCGGGATGCATTTCTGCATCGAGCGCACAAAGTTATCTAA
AACAGTTCATGCTGCTGAAAACCTCCTTCCTGGCAGATGTCCCTCAACCCTACTGGTGCCTGGC
TTCTGAGACACACGCTTCTCTGAAGTAGCTTTGGAAAGTAGAGAAGAAAATCCAGTTTGCTTCT
TGGAGAACACTGGACAGCTGAATAAATGCAGTATCTAAATATAAAAGAGGACTGCAATGCCATG
GCTTTCTGTGCTAAAATGAGGAGCTCCAAGAAGACTGAGGTGAACCTGGAGGCCCCTGAGCCAG
GGGTGGAAGTGATCTTCTATCTGTCGGACAGGGAGCCCCTCCGGCTGGGCAGTGGAGAGTACAC
AGCAGAGGAACTGTGCATCAGGGCTGCACAGGCATGCCGTATCTCTCCTCTTTGTCACAACCTC
TTTGCCCTGTATGACGAGAACACCAAGCTCTGGTATGCTCCAAATCGCACCATCACCGTTGATG
ACAAGATGTCCCTCCGGCTCCACTACCGGATGAGGTTCTATTTCACCAATTGGCATGGAACCAA
CGACAATGAGCAGTCAGTGTGGCGTCATTCTCCAAAGAAGCAGAAAAATGGCTACGAGAAAAAA
AAGATTCCAGATGCAACCCCTCTCCTTGATGCCAGCTCACTGGAGTATCTGTTTGCTCAGGGAC
AGTATGATTTGGTGAAATGCCTGGCTCCTATTCGAGACCCCAAGACCGAGCAGGATGGACATGA
TATTGAGAACGAGTGTCTAGGGATGGCTGTCCTGGCCATCTCACACTATGCCATGATGAAGAAG
ATGCAGTTGCCAGAACTGCCCAAGGACATCAGCTACAAGCGATATATTCCAGAAACATTGAATA
AGTCCATCAGACAGAGGAACCTTCTCACCAGGATGCGGATAAATAATGTTTTCAAGGATTTCCT
AAAGGAATTTAACAACAAGACCATTTGTGACAGCAGCGTGTCCACGCATGACCTGAAGGTGAAA
TACTTGGCTACCTTGGAAACTTTGACAAAACATTACGGTGCTGAAATATTTGAGACTTCCATGT
TACTGATTTCATCAGAAAATGAGATGAATTGGTTTCATTCGAATGACGGTGGAAACGTTCTCTA
CTACGAAGTGATGGTGACTGGGAATCTTGGAATCCAGTGGAGGCATAAACCAAATGTTGTTTCT
GTTGAAAAGGAAAAAAATAAACTGAAGCGGAAAAAACTGGAAAATAAACACAAGAAGGATGAGG
AGAAAAACAAGATCCGGGAAGAGTGGAACAATTTTTCTTACTTCCCTGAAATCACTCACATTGT
AATAAAGGAGTCTGTGGTCAGCATTAACAAGCAGGACAACAAGAAAATGGAACTGAAGCTCTCT
TCCCACGAGGAGGCCTTGTCCTTTGTGTCCCTGGTAGATGGCTACTTCCGGCTCACAGCAGATG
CCCATCATTACCTCTGCACCGACGTGGCCCCCCCGTTGATCGTCCACAACATACAGAATGGCTG
TCATGGTCCAATCTGTACAGAATACGCCATCAATAAATTGCGGCAAGAAGGAAGCGAGGAGGGG
ATGTACGTGCTGAGGTGGAGCTGCACCGACTTTGACAACATCCTCATGACCGTCACCTGCTTTG
AGAAGTCTGAGCAGGTGCAGGGTGCCCAGAAGCAGTTCAAGAACTTTCAGATCGAGGTGCAGAA
GGGCCGCTACAGTCTGCACGGTTCGGACCGCAGCTTCCCCAGCTTGGGAGACCTCATGAGCCAC
CTCAAGAAGCAGATCCTGCGCACGGATAACATCAGCTTCATGCTAAAACGCTGCTGCCAGCCCA
AGCCCCGAGAAATCTCCAACCTGCTGGTGGCTACTAAGAAAGCCCAGGAGTGGCAGCCCGTCTA
CCCCATGAGCCAGCTGAGTTTCGATCGGATCCTCAAGAAGGATCTGGTGCAGGGCGAGCACCTT
GGGAGAGGCACGAGAACACACATCTATTCTGGGACCCTGATGGATTACAAGGATGACGAAGGAA
CTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCCACAGGGATATTTC
CCTGGCCTTCTTCGAGGCAGCCAGCATGATGAGACAGGTCTCCCACAAACACATCGTGTACCTC
TATGGCGTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTGTGGAAGGGGGTCCTC
TGGATCTCTTCATGCACCGGAAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGTTGCCAA
ACAGCTGGCCAGTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTGTGTACT
AAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTCATCAAGCTCAGTG
ACCCCGGCATCCCCATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATGGATTGC
TCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTTGGAACC
ACGCTCTGGGAAATCTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACGCTGATTGAGAAAG
AGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGCTGGCTGACCTCAT
GACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCATCATGAGAGACATT
AATAAGCTTGAAGAGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAGTGGACC
CCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTGACTTGGGAGAGGGCCACTTTGGGAA
GGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTTAAATCT
CTGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATCGAGATCTTAAGGA
ACCTCTATCATGAGAACATTGTGAAGTACAAAGGAATCTGCACAGAAGACGGAGGAAATGGTAT
TAAGCTCATCATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAAAGAATAAGAAC
AAAATAAACCTCAAACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGGATGGACTATTTGG
GTTCTCGGCAATACGTTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACACCA
AGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGAGTATTACACCGTC
AAGGATGACCGGGACAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATGCAATCTAAATTTT
ATATTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTGTGATTC
AGATTCTAGTCCCATGGCTTTGTTCCTGAAAATGATAGGCCCAACCCATGGCCAGATGACAGTC
ACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACTGTCCAGATG
AGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACAAGCTTTCAGAA
CCTTATTGAAGGATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTTAAATTCCACAGA
TTATCAAGTCCTTCTCCTGCAACAAATGCCCAAGTCATTTTTTAAAAATTTCTAATGAAAGAAG
TTTGTGTTCTGTCCAAAAAGTCACTGAACTCATACTTCAGTACATATACATGTATAAGGCACAC
TGTAGTGCTTAATATGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAACTTAGTGACACAT
AATGACAACCAAAATATTTGAAAGCACTTAAGCACTCCTCCTTGTGGAAAGAATATACCACCAT
TTCATCTGGCTAGTTCACCATCACAACTGCATTACCAAAAGGGGATTTTTGAAAACGAGGAGTT
GACCAAAATAATATCTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAAATGTTTTGCT
GGCACATTAATCATAGATAAAGAAAGATTGATGGACTTAGCCCTCAAATTTCAGTATCTATACA
GTACTAGACCATGCATTCTTAAAATATTAGATACCAGGTAGTATATATTGTTTCTGTACAAAAA
TGACTGTATTCTCTCACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGCTCCTGTTCCT
TTGGGTGATCACTAGCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGGATAGCTGTGGAAT
AGATAATTTGCTGCATGTTAATTCTCAAGAACTAAGCCTGTGCCAGTGCTTTCCTAAGCAGTAT
ACCTTTAATCAGAACTCATTCCCAGAACCTGGATGCTATTACACATGCTTTTAAGAAACGTCAA
TGTATATCCTTTTATAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTGGTTTTGAATGCTG
TATGCAACCAGTCTGAATACCACATACGCTGCACTGTTCTTAGAGGGTTTCCATACTTACCACC
GATCTACAAGGGTTGATCCCTGTTTTTACCATCAATCATCACCCTGTGGTGCAACACTTGAAAG
ACCCGGCTAGAGGCACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTTTGCTTGGAGGTAG
CTGGGTAATCAAAAATGTTTAGTCATTGATTCAATGTGAACGATTACGGTCTTTATGACCAAGA
GTCTGAAAATCTTTTTGTTATGCTGTTTAGTATTCGTTTGATATTGTTACTTTTCACCTGTTGA
GCCCAAATTCAGGATTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATTTGTTCATAGCCTA
CATCACCAAGGTCTCTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGTTTACTCTTTATAC
AAATAAATATACTAAAGACTTTA

hide sequence

RefSeq Acc Id:

NM_001321852 ⟹ NP_001308781

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 65,067,746 (-)	NCBI
CHM1_1	1	65,415,253 - 65,649,730 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,945,755 (-)	NCBI

Sequence:

show sequence

ATCTATCACATGGCAGAGATAGAATAAAAACAGAAAAATGGCGACGGTCACGTTGTGGCGAGCC
TTGCTGCGTCATTAGATAATCCTCATGCAAATAGCGGGAAGAACAAAGGAAGGGGAGCCCGGGA
CCCCCGGGGGCGCAGCGCTTCTCTGAAGTAGCTTTGGAAAGTAGAGAAGAAAATCCAGTTTGCT
TCTTGGAGAACACTGGACAGCTGAATAAATGCAGTATCTAAATATAAAAGAGGACTGCAATGCC
ATGGCTTTCTGTGCTAAAATGAGGAGCTCCAAGAAGACTGAGGTGAACCTGGAGGCCCCTGAGC
CAGGGGTGGAAGTGATCTTCTATCTGTCGGACAGGGAGCCCCTCCGGCTGGGCAGTGGAGAGTA
CACAGCAGAGGAACTGTGCATCAGGGCTGCACAGGCATGCCGTATCTCTCCTCTTTGTCACAAC
CTCTTTGCCCTGTATGACGAGAACACCAAGCTCTGGTATGCTCCAAATCGCACCATCACCGTTG
ATGACAAGATGTCCCTCCGGCTCCACTACCGGATGAGGTTCTATTTCACCAATTGGCATGGAAC
CAACGACAATGAGCAGTCAGTGTGGCGTCATTCTCCAAAGAAGCAGAAAAATGGCTACGAGAAA
AAAAAGATTCCAGATGCAACCCCTCTCCTTGATGCCAGCTCACTGGAGTATCTGTTTGCTCAGG
GACAGTATGATTTGGTGAAATGCCTGGCTCCTATTCGAGACCCCAAGACCGAGCAGGATGGACA
TGATATTGAGAACGAGTGTCTAGGGATGGCTGTCCTGGCCATCTCACACTATGCCATGATGAAG
AAGATGCAGTTGCCAGAACTGCCCAAGGACATCAGCTACAAGCGATATATTCCAGAAACATTGA
ATAAGTCCATCAGACAGAGGAACCTTCTCACCAGGATGCGGATAAATAATGTTTTCAAGGATTT
CCTAAAGGAATTTAACAACAAGACCATTTGTGACAGCAGCGTGTCCACGCATGACCTGAAGGTG
AAATACTTGGCTACCTTGGAAACTTTGACAAAACATTACGGTGCTGAAATATTTGAGACTTCCA
TGTTACTGATTTCATCAGAAAATGAGATGAATTGGTTTCATTCGAATGACGGTGGAAACGTTCT
CTACTACGAAGTGATGGTGACTGGGAATCTTGGAATCCAGTGGAGGCATAAACCAAATGTTGTT
TCTGTTGAAAAGGAAAAAAATAAACTGAAGCGGAAAAAACTGGAAAATAAACACAAGAAGGATG
AGGAGAAAAACAAGATCCGGGAAGAGTGGAACAATTTTTCTTACTTCCCTGAAATCACTCACAT
TGTAATAAAGGAGTCTGTGGTCAGCATTAACAAGCAGGACAACAAGAAAATGGAACTGAAGCTC
TCTTCCCACGAGGAGGCCTTGTCCTTTGTGTCCCTGGTAGATGGCTACTTCCGGCTCACAGCAG
ATGCCCATCATTACCTCTGCACCGACGTGGCCCCCCCGTTGATCGTCCACAACATACAGAATGG
CTGTCATGGTCCAATCTGTACAGAATACGCCATCAATAAATTGCGGCAAGAAGGAAGCGAGGAG
GGGATGTACGTGCTGAGGTGGAGCTGCACCGACTTTGACAACATCCTCATGACCGTCACCTGCT
TTGAGAAGTCTGAGCAGGTGCAGGGTGCCCAGAAGCAGTTCAAGAACTTTCAGATCGAGGTGCA
GAAGGGCCGCTACAGTCTGCACGGTTCGGACCGCAGCTTCCCCAGCTTGGGAGACCTCATGAGC
CACCTCAAGAAGCAGATCCTGCGCACGGATAACATCAGCTTCATGCTAAAACGCTGCTGCCAGC
CCAAGCCCCGAGAAATCTCCAACCTGCTGGTGGCTACTAAGAAAGCCCAGGAGTGGCAGCCCGT
CTACCCCATGAGCCAGCTGAGTTTCGATCGGATCCTCAAGAAGGATCTGGTGCAGGGCGAGCAC
CTTGGGAGAGGCACGAGAACACACATCTATTCTGGGACCCTGATGGATTACAAGGATGACGAAG
GAACTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCCACAGGGATAT
TTCCCTGGCCTTCTTCGAGGCAGCCAGCATGATGAGACAGGTCTCCCACAAACACATCGTGTAC
CTCTATGGCGTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTGTGGAAGGGGGTC
CTCTGGATCTCTTCATGCACCGGAAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGTTGC
CAAACAGCTGGCCAGTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTGTGT
ACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTCATCAAGCTCA
GTGACCCCGGCATCCCCATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATGGAT
TGCTCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTTGGA
ACCACGCTCTGGGAAATCTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACGCTGATTGAGA
AAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGCTGGCTGACCT
CATGACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCATCATGAGAGAC
ATTAATAAGCTTGAAGAGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAGTGG
ACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTGACTTGGGAGAGGGCCACTTTGG
GAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTTAAA
TCTCTGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATCGAGATCTTAA
GGAACCTCTATCATGAGAACATTGTGAAGTACAAAGGAATCTGCACAGAAGACGGAGGAAATGG
TATTAAGCTCATCATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAAAGAATAAG
AACAAAATAAACCTCAAACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGGATGGACTATT
TGGGTTCTCGGCAATACGTTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACA
CCAAGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGAGTATTACACC
GTCAAGGATGACCGGGACAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATGCAATCTAAAT
TTTATATTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTGTGA
TTCAGATTCTAGTCCCATGGCTTTGTTCCTGAAAATGATAGGCCCAACCCATGGCCAGATGACA
GTCACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACTGTCCAG
ATGAGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACAAGCTTTCA
GAACCTTATTGAAGGATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTTAAATTCCAC
AGATTATCAAGTCCTTCTCCTGCAACAAATGCCCAAGTCATTTTTTAAAAATTTCTAATGAAAG
AAGTTTGTGTTCTGTCCAAAAAGTCACTGAACTCATACTTCAGTACATATACATGTATAAGGCA
CACTGTAGTGCTTAATATGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAACTTAGTGACA
CATAATGACAACCAAAATATTTGAAAGCACTTAAGCACTCCTCCTTGTGGAAAGAATATACCAC
CATTTCATCTGGCTAGTTCACCATCACAACTGCATTACCAAAAGGGGATTTTTGAAAACGAGGA
GTTGACCAAAATAATATCTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAAATGTTTT
GCTGGCACATTAATCATAGATAAAGAAAGATTGATGGACTTAGCCCTCAAATTTCAGTATCTAT
ACAGTACTAGACCATGCATTCTTAAAATATTAGATACCAGGTAGTATATATTGTTTCTGTACAA
AAATGACTGTATTCTCTCACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGCTCCTGTT
CCTTTGGGTGATCACTAGCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGGATAGCTGTGG
AATAGATAATTTGCTGCATGTTAATTCTCAAGAACTAAGCCTGTGCCAGTGCTTTCCTAAGCAG
TATACCTTTAATCAGAACTCATTCCCAGAACCTGGATGCTATTACACATGCTTTTAAGAAACGT
CAATGTATATCCTTTTATAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTGGTTTTGAATG
CTGTATGCAACCAGTCTGAATACCACATACGCTGCACTGTTCTTAGAGGGTTTCCATACTTACC
ACCGATCTACAAGGGTTGATCCCTGTTTTTACCATCAATCATCACCCTGTGGTGCAACACTTGA
AAGACCCGGCTAGAGGCACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTTTGCTTGGAGG
TAGCTGGGTAATCAAAAATGTTTAGTCATTGATTCAATGTGAACGATTACGGTCTTTATGACCA
AGAGTCTGAAAATCTTTTTGTTATGCTGTTTAGTATTCGTTTGATATTGTTACTTTTCACCTGT
TGAGCCCAAATTCAGGATTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATTTGTTCATAGC
CTACATCACCAAGGTCTCTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGTTTACTCTTTA
TACAAATAAATATACTAAAGACTTTA

hide sequence

RefSeq Acc Id:

NM_001321853 ⟹ NP_001308782

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 65,067,746 (-)	NCBI
CHM1_1	1	65,415,253 - 65,649,730 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,945,755 (-)	NCBI

Sequence:

show sequence

ATCTATCACATGGCAGAGATAGAATAAAAACAGAAAAATGGCGACGGTCACGTTGTGGCGAGCC
TTGCTGCGTCATTAGATAATCCTCATGCAAATAGCGGGAAGAACAAAGGAAGGGGAGCCCGGGA
CCCCCGGGGGCGCAGGATCCGGCGGGAGGAGTCTAAGAGGAGGAGGCGGCGGTGCCGGAGGAGG
AGGAGGAGGGAGGGAGAAGAGAGGAAGACCGGAGTCCCCGCGGCGGCGGCGGTCCGGAGAGAGG
GCGAGCCCCGCGCGGCGCCGGGGACCGGGCGCTACCACGAGGCCGGGACGCTGGAGTCTGGGTT
ATCTAAAACAGTTCATGCTGCTGAAAACCTCCTTCCTGGCAGATGTCCCTCAACCCTACTGGTG
CCTGGCTTCTGAGACACACGCTTCTCTGAAGTAGCTTTGGAAAGTAGAGAAGAAAATCCAGTTT
GCTTCTTGGAGAACACTGGACAGCTGAATAAATGCAGTATCTAAATATAAAAGAGGACTGCAAT
GCCATGGCTTTCTGTGCTAAAATGAGGAGCTCCAAGAAGACTGAGGTGAACCTGGAGGCCCCTG
AGCCAGGGGTGGAAGTGATCTTCTATCTGTCGGACAGGGAGCCCCTCCGGCTGGGCAGTGGAGA
GTACACAGCAGAGGAACTGTGCATCAGGGCTGCACAGGCATGCCGTATCTCTCCTCTTTGTCAC
AACCTCTTTGCCCTGTATGACGAGAACACCAAGCTCTGGTATGCTCCAAATCGCACCATCACCG
TTGATGACAAGATGTCCCTCCGGCTCCACTACCGGATGAGGTTCTATTTCACCAATTGGCATGG
AACCAACGACAATGAGCAGTCAGTGTGGCGTCATTCTCCAAAGAAGCAGAAAAATGGCTACGAG
AAAAAAAAGATTCCAGATGCAACCCCTCTCCTTGATGCCAGCTCACTGGAGTATCTGTTTGCTC
AGGGACAGTATGATTTGGTGAAATGCCTGGCTCCTATTCGAGACCCCAAGACCGAGCAGGATGG
ACATGATATTGAGAACGAGTGTCTAGGGATGGCTGTCCTGGCCATCTCACACTATGCCATGATG
AAGAAGATGCAGTTGCCAGAACTGCCCAAGGACATCAGCTACAAGCGATATATTCCAGAAACAT
TGAATAAGTCCATCAGACAGAGGAACCTTCTCACCAGGATGCGGATAAATAATGTTTTCAAGGA
TTTCCTAAAGGAATTTAACAACAAGACCATTTGTGACAGCAGCGTGTCCACGCATGACCTGAAG
GTGAAATACTTGGCTACCTTGGAAACTTTGACAAAACATTACGGTGCTGAAATATTTGAGACTT
CCATGTTACTGATTTCATCAGAAAATGAGATGAATTGGTTTCATTCGAATGACGGTGGAAACGT
TCTCTACTACGAAGTGATGGTGACTGGGAATCTTGGAATCCAGTGGAGGCATAAACCAAATGTT
GTTTCTGTTGAAAAGGAAAAAAATAAACTGAAGCGGAAAAAACTGGAAAATAAACACAAGAAGG
ATGAGGAGAAAAACAAGATCCGGGAAGAGTGGAACAATTTTTCTTACTTCCCTGAAATCACTCA
CATTGTAATAAAGGAGTCTGTGGTCAGCATTAACAAGCAGGACAACAAGAAAATGGAACTGAAG
CTCTCTTCCCACGAGGAGGCCTTGTCCTTTGTGTCCCTGGTAGATGGCTACTTCCGGCTCACAG
CAGATGCCCATCATTACCTCTGCACCGACGTGGCCCCCCCGTTGATCGTCCACAACATACAGAA
TGGCTGTCATGGTCCAATCTGTACAGAATACGCCATCAATAAATTGCGGCAAGAAGGAAGCGAG
GAGGGGATGTACGTGCTGAGGTGGAGCTGCACCGACTTTGACAACATCCTCATGACCGTCACCT
GCTTTGAGAAGTCTGAGCAGGTGCAGGGTGCCCAGAAGCAGTTCAAGAACTTTCAGATCGAGGT
GCAGAAGGGCCGCTACAGTCTGCACGGTTCGGACCGCAGCTTCCCCAGCTTGGGAGACCTCATG
AGCCACCTCAAGAAGCAGATCCTGCGCACGGATAACATCAGCTTCATGCTAAAACGCTGCTGCC
AGCCCAAGCCCCGAGAAATCTCCAACCTGCTGGTGGCTACTAAGAAAGCCCAGGAGTGGCAGCC
CGTCTACCCCATGAGCCAGCTGAGTTTCGATCGGATCCTCAAGAAGGATCTGGTGCAGGGCGAG
CACCTTGGGAGAGGCACGAGAACACACATCTATTCTGGGACCCTGATGGATTACAAGGATGACG
AAGGAACTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCCACAGGGA
TATTTCCCTGGCCTTCTTCGAGGCAGCCAGCATGATGAGACAGGTCTCCCACAAACACATCGTG
TACCTCTATGGCGTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTGTGGAAGGGG
GTCCTCTGGATCTCTTCATGCACCGGAAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGT
TGCCAAACAGCTGGCCAGTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTG
TGTACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTCATCAAGC
TCAGTGACCCCGGCATCCCCATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATG
GATTGCTCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTT
GGAACCACGCTCTGGGAAATCTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACGCTGATTG
AGAAAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGCTGGCTGA
CCTCATGACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCATCATGAGA
GACATTAATAAGCTTGAAGAGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAG
TGGACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTGACTTGGGAGAGGGCCACTT
TGGGAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTT
AAATCTCTGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATCGAGATCT
TAAGGAACCTCTATCATGAGAACATTGTGAAGTACAAAGGAATCTGCACAGAAGACGGAGGAAA
TGGTATTAAGCTCATCATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAAAGAAT
AAGAACAAAATAAACCTCAAACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGGATGGACT
ATTTGGGTTCTCGGCAATACGTTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGA
ACACCAAGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGAGTATTAC
ACCGTCAAGGATGACCGGGACAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATGCAATCTA
AATTTTATATTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTG
TGATTCAGATTCTAGTCCCATGGCTTTGTTCCTGAAAATGATAGGCCCAACCCATGGCCAGATG
ACAGTCACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACTGTC
CAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACAAGCTT
TCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTTAAATTC
CACAGATTATCAAGTCCTTCTCCTGCAACAAATGCCCAAGTCATTTTTTAAAAATTTCTAATGA
AAGAAGTTTGTGTTCTGTCCAAAAAGTCACTGAACTCATACTTCAGTACATATACATGTATAAG
GCACACTGTAGTGCTTAATATGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAACTTAGTG
ACACATAATGACAACCAAAATATTTGAAAGCACTTAAGCACTCCTCCTTGTGGAAAGAATATAC
CACCATTTCATCTGGCTAGTTCACCATCACAACTGCATTACCAAAAGGGGATTTTTGAAAACGA
GGAGTTGACCAAAATAATATCTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAAATGT
TTTGCTGGCACATTAATCATAGATAAAGAAAGATTGATGGACTTAGCCCTCAAATTTCAGTATC
TATACAGTACTAGACCATGCATTCTTAAAATATTAGATACCAGGTAGTATATATTGTTTCTGTA
CAAAAATGACTGTATTCTCTCACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGCTCCT
GTTCCTTTGGGTGATCACTAGCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGGATAGCTG
TGGAATAGATAATTTGCTGCATGTTAATTCTCAAGAACTAAGCCTGTGCCAGTGCTTTCCTAAG
CAGTATACCTTTAATCAGAACTCATTCCCAGAACCTGGATGCTATTACACATGCTTTTAAGAAA
CGTCAATGTATATCCTTTTATAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTGGTTTTGA
ATGCTGTATGCAACCAGTCTGAATACCACATACGCTGCACTGTTCTTAGAGGGTTTCCATACTT
ACCACCGATCTACAAGGGTTGATCCCTGTTTTTACCATCAATCATCACCCTGTGGTGCAACACT
TGAAAGACCCGGCTAGAGGCACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTTTGCTTGG
AGGTAGCTGGGTAATCAAAAATGTTTAGTCATTGATTCAATGTGAACGATTACGGTCTTTATGA
CCAAGAGTCTGAAAATCTTTTTGTTATGCTGTTTAGTATTCGTTTGATATTGTTACTTTTCACC
TGTTGAGCCCAAATTCAGGATTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATTTGTTCAT
AGCCTACATCACCAAGGTCTCTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGTTTACTCT
TTATACAAATAAATATACTAAAGACTTTA

hide sequence

RefSeq Acc Id:

NM_001321854 ⟹ NP_001308783

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 65,067,746 (-)	NCBI
CHM1_1	1	65,415,253 - 65,649,730 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,945,755 (-)	NCBI

Sequence:

show sequence

ATCTATCACATGGCAGAGATAGAATAAAAACAGAAAAATGGCGACGGTCACGTTGTGGCGAGCC
TTGCTGCGTCATTAGATAATCCTCATGCAAATAGCGGGAAGAACAAAGGAAGGGGAGCCCGGGA
CCCCCGGGGGCGCAGGATCCGGCGGGAGGAGTCTAAGAGGAGGAGGCGGCGGTGCCGGAGGAGG
AGGAGGAGGGAGGGAGAAGAGAGGAAGACCGGAGTCCCCGCGGCGGCGGCGGTCCGGAGAGAGG
GCGAGCCCCGCGCGGCGCCGGGGACCGGGCGCTACCACGAGGCCGGGACGCTGGAGTCTGGGCG
CTTCTCTGAAGTAGCTTTGGAAAGTAGAGAAGAAAATCCAGTTTGCTTCTTGGAGAACACTGGA
CAGCTGAATAAATGCAGTATCTAAATATAAAAGAGGACTGCAATGCCATGGCTTTCTGTGCTAA
AATGAGGAGCTCCAAGAAGACTGAGGTGAACCTGGAGGCCCCTGAGCCAGGGGTGGAAGTGATC
TTCTATCTGTCGGACAGGGAGCCCCTCCGGCTGGGCAGTGGAGAGTACACAGCAGAGGAACTGT
GCATCAGGGCTGCACAGGCATGCCGTATCTCTCCTCTTTGTCACAACCTCTTTGCCCTGTATGA
CGAGAACACCAAGCTCTGGTATGCTCCAAATCGCACCATCACCGTTGATGACAAGATGTCCCTC
CGGCTCCACTACCGGATGAGGTTCTATTTCACCAATTGGCATGGAACCAACGACAATGAGCAGT
CAGTGTGGCGTCATTCTCCAAAGAAGCAGAAAAATGGCTACGAGAAAAAAAAGATTCCAGATGC
AACCCCTCTCCTTGATGCCAGCTCACTGGAGTATCTGTTTGCTCAGGGACAGTATGATTTGGTG
AAATGCCTGGCTCCTATTCGAGACCCCAAGACCGAGCAGGATGGACATGATATTGAGAACGAGT
GTCTAGGGATGGCTGTCCTGGCCATCTCACACTATGCCATGATGAAGAAGATGCAGTTGCCAGA
ACTGCCCAAGGACATCAGCTACAAGCGATATATTCCAGAAACATTGAATAAGTCCATCAGACAG
AGGAACCTTCTCACCAGGATGCGGATAAATAATGTTTTCAAGGATTTCCTAAAGGAATTTAACA
ACAAGACCATTTGTGACAGCAGCGTGTCCACGCATGACCTGAAGGTGAAATACTTGGCTACCTT
GGAAACTTTGACAAAACATTACGGTGCTGAAATATTTGAGACTTCCATGTTACTGATTTCATCA
GAAAATGAGATGAATTGGTTTCATTCGAATGACGGTGGAAACGTTCTCTACTACGAAGTGATGG
TGACTGGGAATCTTGGAATCCAGTGGAGGCATAAACCAAATGTTGTTTCTGTTGAAAAGGAAAA
AAATAAACTGAAGCGGAAAAAACTGGAAAATAAACACAAGAAGGATGAGGAGAAAAACAAGATC
CGGGAAGAGTGGAACAATTTTTCTTACTTCCCTGAAATCACTCACATTGTAATAAAGGAGTCTG
TGGTCAGCATTAACAAGCAGGACAACAAGAAAATGGAACTGAAGCTCTCTTCCCACGAGGAGGC
CTTGTCCTTTGTGTCCCTGGTAGATGGCTACTTCCGGCTCACAGCAGATGCCCATCATTACCTC
TGCACCGACGTGGCCCCCCCGTTGATCGTCCACAACATACAGAATGGCTGTCATGGTCCAATCT
GTACAGAATACGCCATCAATAAATTGCGGCAAGAAGGAAGCGAGGAGGGGATGTACGTGCTGAG
GTGGAGCTGCACCGACTTTGACAACATCCTCATGACCGTCACCTGCTTTGAGAAGTCTGAGCAG
GTGCAGGGTGCCCAGAAGCAGTTCAAGAACTTTCAGATCGAGGTGCAGAAGGGCCGCTACAGTC
TGCACGGTTCGGACCGCAGCTTCCCCAGCTTGGGAGACCTCATGAGCCACCTCAAGAAGCAGAT
CCTGCGCACGGATAACATCAGCTTCATGCTAAAACGCTGCTGCCAGCCCAAGCCCCGAGAAATC
TCCAACCTGCTGGTGGCTACTAAGAAAGCCCAGGAGTGGCAGCCCGTCTACCCCATGAGCCAGC
TGAGTTTCGATCGGATCCTCAAGAAGGATCTGGTGCAGGGCGAGCACCTTGGGAGAGGCACGAG
AACACACATCTATTCTGGGACCCTGATGGATTACAAGGATGACGAAGGAACTTCTGAAGAGAAG
AAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCCACAGGGATATTTCCCTGGCCTTCTTCG
AGGCAGCCAGCATGATGAGACAGGTCTCCCACAAACACATCGTGTACCTCTATGGCGTCTGTGT
CCGCGACGTGGAGAATATCATGGTGGAAGAGTTTGTGGAAGGGGGTCCTCTGGATCTCTTCATG
CACCGGAAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGTTGCCAAACAGCTGGCCAGTG
CCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTGTGTACTAAAAACCTCCTCCT
GGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTCATCAAGCTCAGTGACCCCGGCATCCCC
ATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATGGATTGCTCCTGAGTGTGTTG
AGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTTGGAACCACGCTCTGGGAAAT
CTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACGCTGATTGAGAAAGAGAGATTCTATGAA
AGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGCTGGCTGACCTCATGACCCGCTGCATGA
ACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCATCATGAGAGACATTAATAAGCTTGAAGA
GCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAGTGGACCCCACACATTTTGAA
AAGCGCTTCCTAAAGAGGATCCGTGACTTGGGAGAGGGCCACTTTGGGAAGGTTGAGCTCTGCA
GGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTTAAATCTCTGAAGCCTGAGAG
TGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATCGAGATCTTAAGGAACCTCTATCATGAG
AACATTGTGAAGTACAAAGGAATCTGCACAGAAGACGGAGGAAATGGTATTAAGCTCATCATGG
AATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAAAGAATAAGAACAAAATAAACCTCAA
ACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGGATGGACTATTTGGGTTCTCGGCAATAC
GTTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACACCAAGTGAAAATTGGAG
ACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGAGTATTACACCGTCAAGGATGACCGGGA
CAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATGCAATCTAAATTTTATATTGCCTCTGAC
GTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTGTGATTCAGATTCTAGTCCCA
TGGCTTTGTTCCTGAAAATGATAGGCCCAACCCATGGCCAGATGACAGTCACAAGACTTGTGAA
TACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACTGTCCAGATGAGGTTTATCAACTT
ATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACAAGCTTTCAGAACCTTATTGAAGGAT
TTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTTAAATTCCACAGATTATCAAGTCCTTC
TCCTGCAACAAATGCCCAAGTCATTTTTTAAAAATTTCTAATGAAAGAAGTTTGTGTTCTGTCC
AAAAAGTCACTGAACTCATACTTCAGTACATATACATGTATAAGGCACACTGTAGTGCTTAATA
TGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAACTTAGTGACACATAATGACAACCAAAA
TATTTGAAAGCACTTAAGCACTCCTCCTTGTGGAAAGAATATACCACCATTTCATCTGGCTAGT
TCACCATCACAACTGCATTACCAAAAGGGGATTTTTGAAAACGAGGAGTTGACCAAAATAATAT
CTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAAATGTTTTGCTGGCACATTAATCAT
AGATAAAGAAAGATTGATGGACTTAGCCCTCAAATTTCAGTATCTATACAGTACTAGACCATGC
ATTCTTAAAATATTAGATACCAGGTAGTATATATTGTTTCTGTACAAAAATGACTGTATTCTCT
CACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGCTCCTGTTCCTTTGGGTGATCACTA
GCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGGATAGCTGTGGAATAGATAATTTGCTGC
ATGTTAATTCTCAAGAACTAAGCCTGTGCCAGTGCTTTCCTAAGCAGTATACCTTTAATCAGAA
CTCATTCCCAGAACCTGGATGCTATTACACATGCTTTTAAGAAACGTCAATGTATATCCTTTTA
TAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTGGTTTTGAATGCTGTATGCAACCAGTCT
GAATACCACATACGCTGCACTGTTCTTAGAGGGTTTCCATACTTACCACCGATCTACAAGGGTT
GATCCCTGTTTTTACCATCAATCATCACCCTGTGGTGCAACACTTGAAAGACCCGGCTAGAGGC
ACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTTTGCTTGGAGGTAGCTGGGTAATCAAAA
ATGTTTAGTCATTGATTCAATGTGAACGATTACGGTCTTTATGACCAAGAGTCTGAAAATCTTT
TTGTTATGCTGTTTAGTATTCGTTTGATATTGTTACTTTTCACCTGTTGAGCCCAAATTCAGGA
TTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATTTGTTCATAGCCTACATCACCAAGGTCT
CTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGTTTACTCTTTATACAAATAAATATACTA
AAGACTTTA

hide sequence

RefSeq Acc Id:

NM_001321855 ⟹ NP_001308784

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,966,549 (-)	NCBI
CHM1_1	1	65,415,253 - 65,548,563 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,844,545 (-)	NCBI

Sequence:

show sequence

GCGTCGCTGAGCGCAGGCCGCGGCGGCCGCGGAGTATCCTGGAGCTGCAGACAGTGCGGGCCTG
CGCCCAGTCCCGGCTGTCCTCGCCGCGACCCCTCCTCAGCCCTGGGCGCGCGCACGCTGGGGCC
CCGCGGGGCTGGCCGCCTAGCGAGCCTGCCGGTCGACCCCAGCCAGCGCAGCGACGGGGCGCTG
CCTGGCCCAGGCGCACACGGAAGTGTTATCTAAAACAGTTCATGCTGCTGAAAACCTCCTTCCT
GGCAGATGTCCCTCAACCCTACTGGTGCCTGGCTTCTGAGACACACGCTTCTCTGAAGTAGCTT
TGGAAAGTAGAGAAGAAAATCCAGTTTGCTTCTTGGAGAACACTGGACAGCTGAATAAATGCAG
TATCTAAATATAAAAGAGGACTGCAATGCCATGGCTTTCTGTGCTAAAATGAGGAGCTCCAAGA
AGACTGAGGTGAACCTGGAGGCCCCTGAGCCAGGGGTGGAAGTGATCTTCTATCTGTCGGACAG
GGAGCCCCTCCGGCTGGGCAGTGGAGAGTACACAGCAGAGGAACTGTGCATCAGGGCTGCACAG
GCATGCCGTATCTCTCCTCTTTGTCACAACCTCTTTGCCCTGTATGACGAGAACACCAAGCTCT
GGTATGCTCCAAATCGCACCATCACCGTTGATGACAAGATGTCCCTCCGGCTCCACTACCGGAT
GAGGTTCTATTTCACCAATTGGCATGGAACCAACGACAATGAGCAGTCAGTGTGGCGTCATTCT
CCAAAGAAGCAGAAAAATGGCTACGAGAAAAAAAAGATTCCAGATGCAACCCCTCTCCTTGATG
CCAGCTCACTGGAGTATCTGTTTGCTCAGGGACAGTATGATTTGGTGAAATGCCTGGCTCCTAT
TCGAGACCCCAAGACCGAGCAGGATGGACATGATATTGAGAACGAGTGTCTAGGGATGGCTGTC
CTGGCCATCTCACACTATGCCATGATGAAGAAGATGCAGTTGCCAGAACTGCCCAAGGACATCA
GCTACAAGCGATATATTCCAGAAACATTGAATAAGTCCATCAGACAGAGGAACCTTCTCACCAG
GATGCGGATAAATAATGTTTTCAAGGATTTCCTAAAGGAATTTAACAACAAGACCATTTGTGAC
AGCAGCGTGTCCACGCATGACCTGAAGGTGAAATACTTGGCTACCTTGGAAACTTTGACAAAAC
ATTACGGTGCTGAAATATTTGAGACTTCCATGTTACTGATTTCATCAGAAAATGAGATGAATTG
GTTTCATTCGAATGACGGTGGAAACGTTCTCTACTACGAAGTGATGGTGACTGGGAATCTTGGA
ATCCAGTGGAGGCATAAACCAAATGTTGTTTCTGTTGAAAAGGAAAAAAATAAACTGAAGCGGA
AAAAACTGGAAAATAAACACAAGAAGGATGAGGAGAAAAACAAGATCCGGGAAGAGTGGAACAA
TTTTTCTTACTTCCCTGAAATCACTCACATTGTAATAAAGGAGTCTGTGGTCAGCATTAACAAG
CAGGACAACAAGAAAATGGAACTGAAGCTCTCTTCCCACGAGGAGGCCTTGTCCTTTGTGTCCC
TGGTAGATGGCTACTTCCGGCTCACAGCAGATGCCCATCATTACCTCTGCACCGACGTGGCCCC
CCCGTTGATCGTCCACAACATACAGAATGGCTGTCATGGTCCAATCTGTACAGAATACGCCATC
AATAAATTGCGGCAAGAAGGAAGCGAGGAGGGGATGTACGTGCTGAGGTGGAGCTGCACCGACT
TTGACAACATCCTCATGACCGTCACCTGCTTTGAGAAGTCTGAGCAGGTGCAGGGTGCCCAGAA
GCAGTTCAAGAACTTTCAGATCGAGGTGCAGAAGGGCCGCTACAGTCTGCACGGTTCGGACCGC
AGCTTCCCCAGCTTGGGAGACCTCATGAGCCACCTCAAGAAGCAGATCCTGCGCACGGATAACA
TCAGCTTCATGCTAAAACGCTGCTGCCAGCCCAAGCCCCGAGAAATCTCCAACCTGCTGGTGGC
TACTAAGAAAGCCCAGGAGTGGCAGCCCGTCTACCCCATGAGCCAGCTGAGTTTCGATCGGATC
CTCAAGAAGGATCTGGTGCAGGGCGAGCACCTTGGGAGAGGCACGAGAACACACATCTATTCTG
GGACCCTGATGGATTACAAGGATGACGAAGGAACTTCTGAAGAGAAGAAGATAAAAGTGATCCT
CAAAGTCTTAGACCCCAGCCACAGGGATATTTCCCTGGCCTTCTTCGAGGCAGCCAGCATGATG
AGACAGGTCTCCCACAAACACATCGTGTACCTCTATGGCGTCTGTGTCCGCGACGTGGAGAATA
TCATGGTGGAAGAGTTTGTGGAAGGGGGTCCTCTGGATCTCTTCATGCACCGGAAAAGCGATGT
CCTTACCACACCATGGAAATTCAAAGTTGCCAAACAGCTGGCCAGTGCCCTGAGCTACTTGGAG
GATAAAGACCTGGTCCATGGAAATGTGTGTACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCG
ACAGTGAGTGTGGCCCATTCATCAAGCTCAGTGACCCCGGCATCCCCATTACGGTGCTGTCTAG
GCAAGAATGCATTGAACGAATCCCATGGATTGCTCCTGAGTGTGTTGAGGACTCCAAGAACCTG
AGTGTGGCTGCTGACAAGTGGAGCTTTGGAACCACGCTCTGGGAAATCTGCTACAATGGCGAGA
TCCCCTTGAAAGACAAGACGCTGATTGAGAAAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGT
GACACCATCATGTAAGGAGCTGGCTGACCTCATGACCCGCTGCATGAACTATGACCCCAATCAG
AGGCCTTTCTTCCGAGCCATCATGAGAGACATTAATAAGCTTGAAGAGCAGAATCCAGATATTG
TTTCAGAAAAAAAACCAGCAACTGAAGTGGACCCCACACATTTTGAAAAGCGCTTCCTAAAGAG
GATCCGTGACTTGGGAGAGGGCCACTTTGGGAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGG
GACAATACAGGGGAGCAGGTGGCTGTTAAATCTCTGAAGCCTGAGAGTGGAGGTAACCACATAG
CTGATCTGAAAAAGGAAATCGAGATCTTAAGGAACCTCTATCATGAGAACATTGTGAAGTACAA
AGGAATCTGCACAGAAGACGGAGGAAATGGTATTAAGCTCATCATGGAATTTCTGCCTTCGGGA
AGCCTTAAGGAATATCTTCCAAAGAATAAGAACAAAATAAACCTCAAACAGCAGCTAAAATATG
CCGTTCAGATTTGTAAGGGGATGGACTATTTGGGTTCTCGGCAATACGTTCACCGGGACTTGGC
AGCAAGAAATGTCCTTGTTGAGAGTGAACACCAAGTGAAAATTGGAGACTTCGGTTTAACCAAA
GCAATTGAAACCGATAAGGAGTATTACACCGTCAAGGATGACCGGGACAGCCCTGTGTTTTGGT
ATGCTCCAGAATGTTTAATGCAATCTAAATTTTATATTGCCTCTGACGTCTGGTCTTTTGGAGT
CACTCTGCATGAGCTGCTGACTTACTGTGATTCAGATTCTAGTCCCATGGCTTTGTTCCTGAAA
ATGATAGGCCCAACCCATGGCCAGATGACAGTCACAAGACTTGTGAATACGTTAAAAGAAGGAA
AACGCCTGCCGTGCCCACCTAACTGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGA
ATTCCAACCATCCAATCGGACAAGCTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAA
TAAGAAGCATGAATAACATTTAAATTCCACAGATTATCAAGTCCTTCTCCTGCAACAAATGCCC
AAGTCATTTTTTAAAAATTTCTAATGAAAGAAGTTTGTGTTCTGTCCAAAAAGTCACTGAACTC
ATACTTCAGTACATATACATGTATAAGGCACACTGTAGTGCTTAATATGTGTAAGGACTTCCTC
TTTAAATTTGGTACCAGTAACTTAGTGACACATAATGACAACCAAAATATTTGAAAGCACTTAA
GCACTCCTCCTTGTGGAAAGAATATACCACCATTTCATCTGGCTAGTTCACCATCACAACTGCA
TTACCAAAAGGGGATTTTTGAAAACGAGGAGTTGACCAAAATAATATCTGAAGATGATTGCTTT
TCCCTGCTGCCAGCTGATCTGAAATGTTTTGCTGGCACATTAATCATAGATAAAGAAAGATTGA
TGGACTTAGCCCTCAAATTTCAGTATCTATACAGTACTAGACCATGCATTCTTAAAATATTAGA
TACCAGGTAGTATATATTGTTTCTGTACAAAAATGACTGTATTCTCTCACCAGTAGGACTTAAA
CTTTGTTTCTCCAGTGGCTTAGCTCCTGTTCCTTTGGGTGATCACTAGCACCCATTTTTGAGAA
AGCTGGTTCTACATGGGGGGATAGCTGTGGAATAGATAATTTGCTGCATGTTAATTCTCAAGAA
CTAAGCCTGTGCCAGTGCTTTCCTAAGCAGTATACCTTTAATCAGAACTCATTCCCAGAACCTG
GATGCTATTACACATGCTTTTAAGAAACGTCAATGTATATCCTTTTATAACTCTACCACTTTGG
GGCAAGCTATTCCAGCACTGGTTTTGAATGCTGTATGCAACCAGTCTGAATACCACATACGCTG
CACTGTTCTTAGAGGGTTTCCATACTTACCACCGATCTACAAGGGTTGATCCCTGTTTTTACCA
TCAATCATCACCCTGTGGTGCAACACTTGAAAGACCCGGCTAGAGGCACTATGGACTTCAGGAT
CCACTAGACAGTTTTCAGTTTGCTTGGAGGTAGCTGGGTAATCAAAAATGTTTAGTCATTGATT
CAATGTGAACGATTACGGTCTTTATGACCAAGAGTCTGAAAATCTTTTTGTTATGCTGTTTAGT
ATTCGTTTGATATTGTTACTTTTCACCTGTTGAGCCCAAATTCAGGATTGGTTCAGTGGCAGCA
ATGAAGTTGCCATTTAAATTTGTTCATAGCCTACATCACCAAGGTCTCTGTGTCAAACCTGTGG
CCACTCTATATGCACTTTGTTTACTCTTTATACAAATAAATATACTAAAGACTTTA

hide sequence

RefSeq Acc Id:

NM_001321856 ⟹ NP_001308785

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,966,936 (-)	NCBI
CHM1_1	1	65,415,253 - 65,548,930 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,844,932 (-)	NCBI

Sequence:

show sequence

AGAAGCGGAGCGTATACGGAGGAGGCGGGATGCATTTCTGCATCGAGCGCACAAAGCGCTTCTC
TGAAGTAGCTTTGGAAAGTAGAGAAGAAAATCCAGTTTGCTTCTTGGAGAACACTGGACAGCTG
AATAAATGCAGTATCTAAATATAAAAGAGGACTGCAATGCCATGGCTTTCTGTGCTAAAATGAG
GAGCTCCAAGAAGACTGAGGTGAACCTGGAGGCCCCTGAGCCAGGGGTGGAAGTGATCTTCTAT
CTGTCGGACAGGGAGCCCCTCCGGCTGGGCAGTGGAGAGTACACAGCAGAGGAACTGTGCATCA
GGGCTGCACAGGCATGCCGTATCTCTCCTCTTTGTCACAACCTCTTTGCCCTGTATGACGAGAA
CACCAAGCTCTGGTATGCTCCAAATCGCACCATCACCGTTGATGACAAGATGTCCCTCCGGCTC
CACTACCGGATGAGGTTCTATTTCACCAATTGGCATGGAACCAACGACAATGAGCAGTCAGTGT
GGCGTCATTCTCCAAAGAAGCAGAAAAATGGCTACGAGAAAAAAAAGATTCCAGATGCAACCCC
TCTCCTTGATGCCAGCTCACTGGAGTATCTGTTTGCTCAGGGACAGTATGATTTGGTGAAATGC
CTGGCTCCTATTCGAGACCCCAAGACCGAGCAGGATGGACATGATATTGAGAACGAGTGTCTAG
GGATGGCTGTCCTGGCCATCTCACACTATGCCATGATGAAGAAGATGCAGTTGCCAGAACTGCC
CAAGGACATCAGCTACAAGCGATATATTCCAGAAACATTGAATAAGTCCATCAGACAGAGGAAC
CTTCTCACCAGGATGCGGATAAATAATGTTTTCAAGGATTTCCTAAAGGAATTTAACAACAAGA
CCATTTGTGACAGCAGCGTGTCCACGCATGACCTGAAGGTGAAATACTTGGCTACCTTGGAAAC
TTTGACAAAACATTACGGTGCTGAAATATTTGAGACTTCCATGTTACTGATTTCATCAGAAAAT
GAGATGAATTGGTTTCATTCGAATGACGGTGGAAACGTTCTCTACTACGAAGTGATGGTGACTG
GGAATCTTGGAATCCAGTGGAGGCATAAACCAAATGTTGTTTCTGTTGAAAAGGAAAAAAATAA
ACTGAAGCGGAAAAAACTGGAAAATAAACACAAGAAGGATGAGGAGAAAAACAAGATCCGGGAA
GAGTGGAACAATTTTTCTTACTTCCCTGAAATCACTCACATTGTAATAAAGGAGTCTGTGGTCA
GCATTAACAAGCAGGACAACAAGAAAATGGAACTGAAGCTCTCTTCCCACGAGGAGGCCTTGTC
CTTTGTGTCCCTGGTAGATGGCTACTTCCGGCTCACAGCAGATGCCCATCATTACCTCTGCACC
GACGTGGCCCCCCCGTTGATCGTCCACAACATACAGAATGGCTGTCATGGTCCAATCTGTACAG
AATACGCCATCAATAAATTGCGGCAAGAAGGAAGCGAGGAGGGGATGTACGTGCTGAGGTGGAG
CTGCACCGACTTTGACAACATCCTCATGACCGTCACCTGCTTTGAGAAGTCTGAGCAGGTGCAG
GGTGCCCAGAAGCAGTTCAAGAACTTTCAGATCGAGGTGCAGAAGGGCCGCTACAGTCTGCACG
GTTCGGACCGCAGCTTCCCCAGCTTGGGAGACCTCATGAGCCACCTCAAGAAGCAGATCCTGCG
CACGGATAACATCAGCTTCATGCTAAAACGCTGCTGCCAGCCCAAGCCCCGAGAAATCTCCAAC
CTGCTGGTGGCTACTAAGAAAGCCCAGGAGTGGCAGCCCGTCTACCCCATGAGCCAGCTGAGTT
TCGATCGGATCCTCAAGAAGGATCTGGTGCAGGGCGAGCACCTTGGGAGAGGCACGAGAACACA
CATCTATTCTGGGACCCTGATGGATTACAAGGATGACGAAGGAACTTCTGAAGAGAAGAAGATA
AAAGTGATCCTCAAAGTCTTAGACCCCAGCCACAGGGATATTTCCCTGGCCTTCTTCGAGGCAG
CCAGCATGATGAGACAGGTCTCCCACAAACACATCGTGTACCTCTATGGCGTCTGTGTCCGCGA
CGTGGAGAATATCATGGTGGAAGAGTTTGTGGAAGGGGGTCCTCTGGATCTCTTCATGCACCGG
AAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGTTGCCAAACAGCTGGCCAGTGCCCTGA
GCTACTTGGAGGATAAAGACCTGGTCCATGGAAATGTGTGTACTAAAAACCTCCTCCTGGCCCG
TGAGGGCATCGACAGTGAGTGTGGCCCATTCATCAAGCTCAGTGACCCCGGCATCCCCATTACG
GTGCTGTCTAGGCAAGAATGCATTGAACGAATCCCATGGATTGCTCCTGAGTGTGTTGAGGACT
CCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTTGGAACCACGCTCTGGGAAATCTGCTA
CAATGGCGAGATCCCCTTGAAAGACAAGACGCTGATTGAGAAAGAGAGATTCTATGAAAGCCGG
TGCAGGCCAGTGACACCATCATGTAAGGAGCTGGCTGACCTCATGACCCGCTGCATGAACTATG
ACCCCAATCAGAGGCCTTTCTTCCGAGCCATCATGAGAGACATTAATAAGCTTGAAGAGCAGAA
TCCAGATATTGTTTCAGAAAAAAAACCAGCAACTGAAGTGGACCCCACACATTTTGAAAAGCGC
TTCCTAAAGAGGATCCGTGACTTGGGAGAGGGCCACTTTGGGAAGGTTGAGCTCTGCAGGTATG
ACCCCGAAGGGGACAATACAGGGGAGCAGGTGGCTGTTAAATCTCTGAAGCCTGAGAGTGGAGG
TAACCACATAGCTGATCTGAAAAAGGAAATCGAGATCTTAAGGAACCTCTATCATGAGAACATT
GTGAAGTACAAAGGAATCTGCACAGAAGACGGAGGAAATGGTATTAAGCTCATCATGGAATTTC
TGCCTTCGGGAAGCCTTAAGGAATATCTTCCAAAGAATAAGAACAAAATAAACCTCAAACAGCA
GCTAAAATATGCCGTTCAGATTTGTAAGGGGATGGACTATTTGGGTTCTCGGCAATACGTTCAC
CGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACACCAAGTGAAAATTGGAGACTTCG
GTTTAACCAAAGCAATTGAAACCGATAAGGAGTATTACACCGTCAAGGATGACCGGGACAGCCC
TGTGTTTTGGTATGCTCCAGAATGTTTAATGCAATCTAAATTTTATATTGCCTCTGACGTCTGG
TCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTGTGATTCAGATTCTAGTCCCATGGCTT
TGTTCCTGAAAATGATAGGCCCAACCCATGGCCAGATGACAGTCACAAGACTTGTGAATACGTT
AAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACTGTCCAGATGAGGTTTATCAACTTATGAGG
AAATGCTGGGAATTCCAACCATCCAATCGGACAAGCTTTCAGAACCTTATTGAAGGATTTGAAG
CACTTTTAAAATAAGAAGCATGAATAACATTTAAATTCCACAGATTATCAAGTCCTTCTCCTGC
AACAAATGCCCAAGTCATTTTTTAAAAATTTCTAATGAAAGAAGTTTGTGTTCTGTCCAAAAAG
TCACTGAACTCATACTTCAGTACATATACATGTATAAGGCACACTGTAGTGCTTAATATGTGTA
AGGACTTCCTCTTTAAATTTGGTACCAGTAACTTAGTGACACATAATGACAACCAAAATATTTG
AAAGCACTTAAGCACTCCTCCTTGTGGAAAGAATATACCACCATTTCATCTGGCTAGTTCACCA
TCACAACTGCATTACCAAAAGGGGATTTTTGAAAACGAGGAGTTGACCAAAATAATATCTGAAG
ATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAAATGTTTTGCTGGCACATTAATCATAGATAA
AGAAAGATTGATGGACTTAGCCCTCAAATTTCAGTATCTATACAGTACTAGACCATGCATTCTT
AAAATATTAGATACCAGGTAGTATATATTGTTTCTGTACAAAAATGACTGTATTCTCTCACCAG
TAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGCTCCTGTTCCTTTGGGTGATCACTAGCACCC
ATTTTTGAGAAAGCTGGTTCTACATGGGGGGATAGCTGTGGAATAGATAATTTGCTGCATGTTA
ATTCTCAAGAACTAAGCCTGTGCCAGTGCTTTCCTAAGCAGTATACCTTTAATCAGAACTCATT
CCCAGAACCTGGATGCTATTACACATGCTTTTAAGAAACGTCAATGTATATCCTTTTATAACTC
TACCACTTTGGGGCAAGCTATTCCAGCACTGGTTTTGAATGCTGTATGCAACCAGTCTGAATAC
CACATACGCTGCACTGTTCTTAGAGGGTTTCCATACTTACCACCGATCTACAAGGGTTGATCCC
TGTTTTTACCATCAATCATCACCCTGTGGTGCAACACTTGAAAGACCCGGCTAGAGGCACTATG
GACTTCAGGATCCACTAGACAGTTTTCAGTTTGCTTGGAGGTAGCTGGGTAATCAAAAATGTTT
AGTCATTGATTCAATGTGAACGATTACGGTCTTTATGACCAAGAGTCTGAAAATCTTTTTGTTA
TGCTGTTTAGTATTCGTTTGATATTGTTACTTTTCACCTGTTGAGCCCAAATTCAGGATTGGTT
CAGTGGCAGCAATGAAGTTGCCATTTAAATTTGTTCATAGCCTACATCACCAAGGTCTCTGTGT
CAAACCTGTGGCCACTCTATATGCACTTTGTTTACTCTTTATACAAATAAATATACTAAAGACT
TTA

hide sequence

RefSeq Acc Id:

NM_001321857 ⟹ NP_001308786

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,966,549 (-)	NCBI
CHM1_1	1	65,415,253 - 65,548,563 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,844,545 (-)	NCBI

Sequence:

show sequence

GCGTCGCTGAGCGCAGGCCGCGGCGGCCGCGGAGTATCCTGGAGCTGCAGACAGTGCGGGCCTG
CGCCCAGTCCCGGCTGTCCTCGCCGCGACCCCTCCTCAGCCCTGGGCGCGCGCACGCTGGGGCC
CCGCGGGGCTGGCCGCCTAGCGAGCCTGCCGGTCGACCCCAGCCAGCGCAGCGACGGGGCGCTG
CCTGGCCCAGGCGCACACGGAAGTGCGCTTCTCTGAAGTAGCTTTGGAAAGTAGAGAAGAAAAT
CCAGTTTGCTTCTTGGAGAACACTGGACAGCTGAATAAATGCAGTATCTAAATATAAAAGAGGA
CTGCAATGCCATGGCTTTCTGTGCTAAAATGAGGAGCTCCAAGAAGACTGAGGTGAACCTGGAG
GCCCCTGAGCCAGGGGTGGAAGTGATCTTCTATCTGTCGGACAGGGAGCCCCTCCGGCTGGGCA
GTGGAGAGTACACAGCAGAGGAACTGTGCATCAGGGCTGCACAGGCATGCCGTATCTCTCCTCT
TTGTCACAACCTCTTTGCCCTGTATGACGAGAACACCAAGCTCTGGTATGCTCCAAATCGCACC
ATCACCGTTGATGACAAGATGTCCCTCCGGCTCCACTACCGGATGAGGTTCTATTTCACCAATT
GGCATGGAACCAACGACAATGAGCAGTCAGTGTGGCGTCATTCTCCAAAGAAGCAGAAAAATGG
CTACGAGAAAAAAAAGATTCCAGATGCAACCCCTCTCCTTGATGCCAGCTCACTGGAGTATCTG
TTTGCTCAGGGACAGTATGATTTGGTGAAATGCCTGGCTCCTATTCGAGACCCCAAGACCGAGC
AGGATGGACATGATATTGAGAACGAGTGTCTAGGGATGGCTGTCCTGGCCATCTCACACTATGC
CATGATGAAGAAGATGCAGTTGCCAGAACTGCCCAAGGACATCAGCTACAAGCGATATATTCCA
GAAACATTGAATAAGTCCATCAGACAGAGGAACCTTCTCACCAGGATGCGGATAAATAATGTTT
TCAAGGATTTCCTAAAGGAATTTAACAACAAGACCATTTGTGACAGCAGCGTGTCCACGCATGA
CCTGAAGGTGAAATACTTGGCTACCTTGGAAACTTTGACAAAACATTACGGTGCTGAAATATTT
GAGACTTCCATGTTACTGATTTCATCAGAAAATGAGATGAATTGGTTTCATTCGAATGACGGTG
GAAACGTTCTCTACTACGAAGTGATGGTGACTGGGAATCTTGGAATCCAGTGGAGGCATAAACC
AAATGTTGTTTCTGTTGAAAAGGAAAAAAATAAACTGAAGCGGAAAAAACTGGAAAATAAACAC
AAGAAGGATGAGGAGAAAAACAAGATCCGGGAAGAGTGGAACAATTTTTCTTACTTCCCTGAAA
TCACTCACATTGTAATAAAGGAGTCTGTGGTCAGCATTAACAAGCAGGACAACAAGAAAATGGA
ACTGAAGCTCTCTTCCCACGAGGAGGCCTTGTCCTTTGTGTCCCTGGTAGATGGCTACTTCCGG
CTCACAGCAGATGCCCATCATTACCTCTGCACCGACGTGGCCCCCCCGTTGATCGTCCACAACA
TACAGAATGGCTGTCATGGTCCAATCTGTACAGAATACGCCATCAATAAATTGCGGCAAGAAGG
AAGCGAGGAGGGGATGTACGTGCTGAGGTGGAGCTGCACCGACTTTGACAACATCCTCATGACC
GTCACCTGCTTTGAGAAGTCTGAGGTGCAGGGTGCCCAGAAGCAGTTCAAGAACTTTCAGATCG
AGGTGCAGAAGGGCCGCTACAGTCTGCACGGTTCGGACCGCAGCTTCCCCAGCTTGGGAGACCT
CATGAGCCACCTCAAGAAGCAGATCCTGCGCACGGATAACATCAGCTTCATGCTAAAACGCTGC
TGCCAGCCCAAGCCCCGAGAAATCTCCAACCTGCTGGTGGCTACTAAGAAAGCCCAGGAGTGGC
AGCCCGTCTACCCCATGAGCCAGCTGAGTTTCGATCGGATCCTCAAGAAGGATCTGGTGCAGGG
CGAGCACCTTGGGAGAGGCACGAGAACACACATCTATTCTGGGACCCTGATGGATTACAAGGAT
GACGAAGGAACTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCCACA
GGGATATTTCCCTGGCCTTCTTCGAGGCAGCCAGCATGATGAGACAGGTCTCCCACAAACACAT
CGTGTACCTCTATGGCGTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTGTGGAA
GGGGGTCCTCTGGATCTCTTCATGCACCGGAAAAGCGATGTCCTTACCACACCATGGAAATTCA
AAGTTGCCAAACAGCTGGCCAGTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGGAAA
TGTGTGTACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTCATC
AAGCTCAGTGACCCCGGCATCCCCATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAATCC
CATGGATTGCTCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAG
CTTTGGAACCACGCTCTGGGAAATCTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACGCTG
ATTGAGAAAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGCTGG
CTGACCTCATGACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCATCAT
GAGAGACATTAATAAGCTTGAAGAGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCAACT
GAAGTGGACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTGACTTGGGAGAGGGCC
ACTTTGGGAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGTGGC
TGTTAAATCTCTGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATCGAG
ATCTTAAGGAACCTCTATCATGAGAACATTGTGAAGTACAAAGGAATCTGCACAGAAGACGGAG
GAAATGGTATTAAGCTCATCATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCCAAA
GAATAAGAACAAAATAAACCTCAAACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGGATG
GACTATTTGGGTTCTCGGCAATACGTTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGA
GTGAACACCAAGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGAGTA
TTACACCGTCAAGGATGACCGGGACAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATGCAA
TCTAAATTTTATATTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTT
ACTGTGATTCAGATTCTAGTCCCATGGCTTTGTTCCTGAAAATGATAGGCCCAACCCATGGCCA
GATGACAGTCACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAAC
TGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACAA
GCTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATTTAA
ATTCCACAGATTATCAAGTCCTTCTCCTGCAACAAATGCCCAAGTCATTTTTTAAAAATTTCTA
ATGAAAGAAGTTTGTGTTCTGTCCAAAAAGTCACTGAACTCATACTTCAGTACATATACATGTA
TAAGGCACACTGTAGTGCTTAATATGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAACTT
AGTGACACATAATGACAACCAAAATATTTGAAAGCACTTAAGCACTCCTCCTTGTGGAAAGAAT
ATACCACCATTTCATCTGGCTAGTTCACCATCACAACTGCATTACCAAAAGGGGATTTTTGAAA
ACGAGGAGTTGACCAAAATAATATCTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCTGAA
ATGTTTTGCTGGCACATTAATCATAGATAAAGAAAGATTGATGGACTTAGCCCTCAAATTTCAG
TATCTATACAGTACTAGACCATGCATTCTTAAAATATTAGATACCAGGTAGTATATATTGTTTC
TGTACAAAAATGACTGTATTCTCTCACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTTAGC
TCCTGTTCCTTTGGGTGATCACTAGCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGGATA
GCTGTGGAATAGATAATTTGCTGCATGTTAATTCTCAAGAACTAAGCCTGTGCCAGTGCTTTCC
TAAGCAGTATACCTTTAATCAGAACTCATTCCCAGAACCTGGATGCTATTACACATGCTTTTAA
GAAACGTCAATGTATATCCTTTTATAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTGGTT
TTGAATGCTGTATGCAACCAGTCTGAATACCACATACGCTGCACTGTTCTTAGAGGGTTTCCAT
ACTTACCACCGATCTACAAGGGTTGATCCCTGTTTTTACCATCAATCATCACCCTGTGGTGCAA
CACTTGAAAGACCCGGCTAGAGGCACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTTTGC
TTGGAGGTAGCTGGGTAATCAAAAATGTTTAGTCATTGATTCAATGTGAACGATTACGGTCTTT
ATGACCAAGAGTCTGAAAATCTTTTTGTTATGCTGTTTAGTATTCGTTTGATATTGTTACTTTT
CACCTGTTGAGCCCAAATTCAGGATTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATTTGT
TCATAGCCTACATCACCAAGGTCTCTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGTTTA
CTCTTTATACAAATAAATATACTAAAGACTTTA

hide sequence

RefSeq Acc Id:

NM_002227 ⟹ NP_002218

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,966,549 (-)	NCBI
GRCh37	1	65,298,906 - 65,432,593 (-)	NCBI
Build 36	1	65,071,494 - 65,204,775 (-)	NCBI Archive
HuRef	1	63,407,815 - 63,541,120 (-)	ENTREZGENE
CHM1_1	1	65,415,253 - 65,548,563 (-)	NCBI
T2T-CHM13v2.0	1	64,711,228 - 64,844,545 (-)	NCBI

Sequence:

show sequence

GCGTCGCTGAGCGCAGGCCGCGGCGGCCGCGGAGTATCCTGGAGCTGCAGACAGTGCGGGCCTG
CGCCCAGTCCCGGCTGTCCTCGCCGCGACCCCTCCTCAGCCCTGGGCGCGCGCACGCTGGGGCC
CCGCGGGGCTGGCCGCCTAGCGAGCCTGCCGGTCGACCCCAGCCAGCGCAGCGACGGGGCGCTG
CCTGGCCCAGGCGCACACGGAAGTGCGCTTCTCTGAAGTAGCTTTGGAAAGTAGAGAAGAAAAT
CCAGTTTGCTTCTTGGAGAACACTGGACAGCTGAATAAATGCAGTATCTAAATATAAAAGAGGA
CTGCAATGCCATGGCTTTCTGTGCTAAAATGAGGAGCTCCAAGAAGACTGAGGTGAACCTGGAG
GCCCCTGAGCCAGGGGTGGAAGTGATCTTCTATCTGTCGGACAGGGAGCCCCTCCGGCTGGGCA
GTGGAGAGTACACAGCAGAGGAACTGTGCATCAGGGCTGCACAGGCATGCCGTATCTCTCCTCT
TTGTCACAACCTCTTTGCCCTGTATGACGAGAACACCAAGCTCTGGTATGCTCCAAATCGCACC
ATCACCGTTGATGACAAGATGTCCCTCCGGCTCCACTACCGGATGAGGTTCTATTTCACCAATT
GGCATGGAACCAACGACAATGAGCAGTCAGTGTGGCGTCATTCTCCAAAGAAGCAGAAAAATGG
CTACGAGAAAAAAAAGATTCCAGATGCAACCCCTCTCCTTGATGCCAGCTCACTGGAGTATCTG
TTTGCTCAGGGACAGTATGATTTGGTGAAATGCCTGGCTCCTATTCGAGACCCCAAGACCGAGC
AGGATGGACATGATATTGAGAACGAGTGTCTAGGGATGGCTGTCCTGGCCATCTCACACTATGC
CATGATGAAGAAGATGCAGTTGCCAGAACTGCCCAAGGACATCAGCTACAAGCGATATATTCCA
GAAACATTGAATAAGTCCATCAGACAGAGGAACCTTCTCACCAGGATGCGGATAAATAATGTTT
TCAAGGATTTCCTAAAGGAATTTAACAACAAGACCATTTGTGACAGCAGCGTGTCCACGCATGA
CCTGAAGGTGAAATACTTGGCTACCTTGGAAACTTTGACAAAACATTACGGTGCTGAAATATTT
GAGACTTCCATGTTACTGATTTCATCAGAAAATGAGATGAATTGGTTTCATTCGAATGACGGTG
GAAACGTTCTCTACTACGAAGTGATGGTGACTGGGAATCTTGGAATCCAGTGGAGGCATAAACC
AAATGTTGTTTCTGTTGAAAAGGAAAAAAATAAACTGAAGCGGAAAAAACTGGAAAATAAACAC
AAGAAGGATGAGGAGAAAAACAAGATCCGGGAAGAGTGGAACAATTTTTCTTACTTCCCTGAAA
TCACTCACATTGTAATAAAGGAGTCTGTGGTCAGCATTAACAAGCAGGACAACAAGAAAATGGA
ACTGAAGCTCTCTTCCCACGAGGAGGCCTTGTCCTTTGTGTCCCTGGTAGATGGCTACTTCCGG
CTCACAGCAGATGCCCATCATTACCTCTGCACCGACGTGGCCCCCCCGTTGATCGTCCACAACA
TACAGAATGGCTGTCATGGTCCAATCTGTACAGAATACGCCATCAATAAATTGCGGCAAGAAGG
AAGCGAGGAGGGGATGTACGTGCTGAGGTGGAGCTGCACCGACTTTGACAACATCCTCATGACC
GTCACCTGCTTTGAGAAGTCTGAGCAGGTGCAGGGTGCCCAGAAGCAGTTCAAGAACTTTCAGA
TCGAGGTGCAGAAGGGCCGCTACAGTCTGCACGGTTCGGACCGCAGCTTCCCCAGCTTGGGAGA
CCTCATGAGCCACCTCAAGAAGCAGATCCTGCGCACGGATAACATCAGCTTCATGCTAAAACGC
TGCTGCCAGCCCAAGCCCCGAGAAATCTCCAACCTGCTGGTGGCTACTAAGAAAGCCCAGGAGT
GGCAGCCCGTCTACCCCATGAGCCAGCTGAGTTTCGATCGGATCCTCAAGAAGGATCTGGTGCA
GGGCGAGCACCTTGGGAGAGGCACGAGAACACACATCTATTCTGGGACCCTGATGGATTACAAG
GATGACGAAGGAACTTCTGAAGAGAAGAAGATAAAAGTGATCCTCAAAGTCTTAGACCCCAGCC
ACAGGGATATTTCCCTGGCCTTCTTCGAGGCAGCCAGCATGATGAGACAGGTCTCCCACAAACA
CATCGTGTACCTCTATGGCGTCTGTGTCCGCGACGTGGAGAATATCATGGTGGAAGAGTTTGTG
GAAGGGGGTCCTCTGGATCTCTTCATGCACCGGAAAAGCGATGTCCTTACCACACCATGGAAAT
TCAAAGTTGCCAAACAGCTGGCCAGTGCCCTGAGCTACTTGGAGGATAAAGACCTGGTCCATGG
AAATGTGTGTACTAAAAACCTCCTCCTGGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTC
ATCAAGCTCAGTGACCCCGGCATCCCCATTACGGTGCTGTCTAGGCAAGAATGCATTGAACGAA
TCCCATGGATTGCTCCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTG
GAGCTTTGGAACCACGCTCTGGGAAATCTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACG
CTGATTGAGAAAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGC
TGGCTGACCTCATGACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCCAT
CATGAGAGACATTAATAAGCTTGAAGAGCAGAATCCAGATATTGTTTCAGAAAAAAAACCAGCA
ACTGAAGTGGACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTGACTTGGGAGAGG
GCCACTTTGGGAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAATACAGGGGAGCAGGT
GGCTGTTAAATCTCTGAAGCCTGAGAGTGGAGGTAACCACATAGCTGATCTGAAAAAGGAAATC
GAGATCTTAAGGAACCTCTATCATGAGAACATTGTGAAGTACAAAGGAATCTGCACAGAAGACG
GAGGAAATGGTATTAAGCTCATCATGGAATTTCTGCCTTCGGGAAGCCTTAAGGAATATCTTCC
AAAGAATAAGAACAAAATAAACCTCAAACAGCAGCTAAAATATGCCGTTCAGATTTGTAAGGGG
ATGGACTATTTGGGTTCTCGGCAATACGTTCACCGGGACTTGGCAGCAAGAAATGTCCTTGTTG
AGAGTGAACACCAAGTGAAAATTGGAGACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGA
GTATTACACCGTCAAGGATGACCGGGACAGCCCTGTGTTTTGGTATGCTCCAGAATGTTTAATG
CAATCTAAATTTTATATTGCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGA
CTTACTGTGATTCAGATTCTAGTCCCATGGCTTTGTTCCTGAAAATGATAGGCCCAACCCATGG
CCAGATGACAGTCACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCT
AACTGTCCAGATGAGGTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGA
CAAGCTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAATAAGAAGCATGAATAACATT
TAAATTCCACAGATTATCAAGTCCTTCTCCTGCAACAAATGCCCAAGTCATTTTTTAAAAATTT
CTAATGAAAGAAGTTTGTGTTCTGTCCAAAAAGTCACTGAACTCATACTTCAGTACATATACAT
GTATAAGGCACACTGTAGTGCTTAATATGTGTAAGGACTTCCTCTTTAAATTTGGTACCAGTAA
CTTAGTGACACATAATGACAACCAAAATATTTGAAAGCACTTAAGCACTCCTCCTTGTGGAAAG
AATATACCACCATTTCATCTGGCTAGTTCACCATCACAACTGCATTACCAAAAGGGGATTTTTG
AAAACGAGGAGTTGACCAAAATAATATCTGAAGATGATTGCTTTTCCCTGCTGCCAGCTGATCT
GAAATGTTTTGCTGGCACATTAATCATAGATAAAGAAAGATTGATGGACTTAGCCCTCAAATTT
CAGTATCTATACAGTACTAGACCATGCATTCTTAAAATATTAGATACCAGGTAGTATATATTGT
TTCTGTACAAAAATGACTGTATTCTCTCACCAGTAGGACTTAAACTTTGTTTCTCCAGTGGCTT
AGCTCCTGTTCCTTTGGGTGATCACTAGCACCCATTTTTGAGAAAGCTGGTTCTACATGGGGGG
ATAGCTGTGGAATAGATAATTTGCTGCATGTTAATTCTCAAGAACTAAGCCTGTGCCAGTGCTT
TCCTAAGCAGTATACCTTTAATCAGAACTCATTCCCAGAACCTGGATGCTATTACACATGCTTT
TAAGAAACGTCAATGTATATCCTTTTATAACTCTACCACTTTGGGGCAAGCTATTCCAGCACTG
GTTTTGAATGCTGTATGCAACCAGTCTGAATACCACATACGCTGCACTGTTCTTAGAGGGTTTC
CATACTTACCACCGATCTACAAGGGTTGATCCCTGTTTTTACCATCAATCATCACCCTGTGGTG
CAACACTTGAAAGACCCGGCTAGAGGCACTATGGACTTCAGGATCCACTAGACAGTTTTCAGTT
TGCTTGGAGGTAGCTGGGTAATCAAAAATGTTTAGTCATTGATTCAATGTGAACGATTACGGTC
TTTATGACCAAGAGTCTGAAAATCTTTTTGTTATGCTGTTTAGTATTCGTTTGATATTGTTACT
TTTCACCTGTTGAGCCCAAATTCAGGATTGGTTCAGTGGCAGCAATGAAGTTGCCATTTAAATT
TGTTCATAGCCTACATCACCAAGGTCTCTGTGTCAAACCTGTGGCCACTCTATATGCACTTTGT
TTACTCTTTATACAAATAAATATACTAAAGACTTTA

hide sequence

RefSeq Acc Id:

XM_047419674 ⟹ XP_047275630

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,889,490 (-)	NCBI

RefSeq Acc Id:

XM_047419675 ⟹ XP_047275631

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,956,984 (-)	NCBI

RefSeq Acc Id:

XM_047419676 ⟹ XP_047275632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 65,067,746 (-)	NCBI

RefSeq Acc Id:

XM_047419677 ⟹ XP_047275633

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	64,833,229 - 64,957,017 (-)	NCBI

RefSeq Acc Id:

XM_054336426 ⟹ XP_054192401

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	64,711,228 - 64,767,468 (-)	NCBI

RefSeq Acc Id:

XM_054336427 ⟹ XP_054192402

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	64,711,228 - 64,945,755 (-)	NCBI

RefSeq Acc Id:

XM_054336428 ⟹ XP_054192403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	64,711,228 - 64,835,012 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001307852	(Get FASTA)	NCBI Sequence Viewer
	NP_001308781	(Get FASTA)	NCBI Sequence Viewer
	NP_001308782	(Get FASTA)	NCBI Sequence Viewer
	NP_001308783	(Get FASTA)	NCBI Sequence Viewer
	NP_001308784	(Get FASTA)	NCBI Sequence Viewer
	NP_001308785	(Get FASTA)	NCBI Sequence Viewer
	NP_001308786	(Get FASTA)	NCBI Sequence Viewer
	NP_002218	(Get FASTA)	NCBI Sequence Viewer
	XP_047275630	(Get FASTA)	NCBI Sequence Viewer
	XP_047275631	(Get FASTA)	NCBI Sequence Viewer
	XP_047275632	(Get FASTA)	NCBI Sequence Viewer
	XP_047275633	(Get FASTA)	NCBI Sequence Viewer
	XP_054192401	(Get FASTA)	NCBI Sequence Viewer
	XP_054192402	(Get FASTA)	NCBI Sequence Viewer
	XP_054192403	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36527	(Get FASTA)	NCBI Sequence Viewer
	AAH23604	(Get FASTA)	NCBI Sequence Viewer
	AAH62431	(Get FASTA)	NCBI Sequence Viewer
	AAI11402	(Get FASTA)	NCBI Sequence Viewer
	AAI32730	(Get FASTA)	NCBI Sequence Viewer
	AER93381	(Get FASTA)	NCBI Sequence Viewer
	BAD92294	(Get FASTA)	NCBI Sequence Viewer
	BAE02826	(Get FASTA)	NCBI Sequence Viewer
	CBG22571	(Get FASTA)	NCBI Sequence Viewer
	EAX06547	(Get FASTA)	NCBI Sequence Viewer
	EAX06548	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000343204
	ENSP00000343204.4
	ENSP00000499884
	ENSP00000499884.1
	ENSP00000499900
	ENSP00000499900.1
	ENSP00000499942.2
	ENSP00000500065.1
	ENSP00000500296
	ENSP00000500296.1
	ENSP00000500328.1
	ENSP00000500422.1
	ENSP00000500476.1
	ENSP00000500485.1
	ENSP00000500714.2
	ENSP00000500745
	ENSP00000500745.1
	ENSP00000500745.2
	ENSP00000500841.1
	ENSP00000500878.1
	ENSP00000514240.1
	ENSP00000514241
	ENSP00000514241.1
	ENSP00000514242.1
	ENSP00000514243
	ENSP00000514243.1
	ENSP00000514244.1
	ENSP00000514289.1
	ENSP00000514290.1
	ENSP00000514291
	ENSP00000514291.1
	ENSP00000514292.1
	ENSP00000514294.1
GenBank Protein	P23458	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_002218 ⟸ NM_002227
- Peptide Label:	isoform 1
- UniProtKB:	P23458 (UniProtKB/Swiss-Prot), Q59GQ2 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGS DRSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFD RILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAAS MMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSY LEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSK NLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDP NQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDP EGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGL TKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALF LKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL LK hide sequence

RefSeq Acc Id:	NP_001308781 ⟸ NM_001321852
- Peptide Label:	isoform 1
- UniProtKB:	P23458 (UniProtKB/Swiss-Prot), Q59GQ2 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGS DRSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFD RILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAAS MMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSY LEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSK NLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDP NQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDP EGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGL TKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALF LKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL LK hide sequence

RefSeq Acc Id:	NP_001308783 ⟸ NM_001321854
- Peptide Label:	isoform 1
- UniProtKB:	P23458 (UniProtKB/Swiss-Prot), Q59GQ2 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGS DRSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFD RILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAAS MMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSY LEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSK NLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDP NQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDP EGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGL TKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALF LKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL LK hide sequence

RefSeq Acc Id:	NP_001308782 ⟸ NM_001321853
- Peptide Label:	isoform 1
- UniProtKB:	P23458 (UniProtKB/Swiss-Prot), Q59GQ2 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGS DRSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFD RILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAAS MMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSY LEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSK NLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDP NQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDP EGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGL TKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALF LKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL LK hide sequence

RefSeq Acc Id:	NP_001308785 ⟸ NM_001321856
- Peptide Label:	isoform 1
- UniProtKB:	P23458 (UniProtKB/Swiss-Prot), Q59GQ2 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGS DRSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFD RILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAAS MMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSY LEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSK NLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDP NQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDP EGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGL TKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALF LKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL LK hide sequence

RefSeq Acc Id:	NP_001307852 ⟸ NM_001320923
- Peptide Label:	isoform 1
- UniProtKB:	P23458 (UniProtKB/Swiss-Prot), Q59GQ2 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGS DRSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFD RILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAAS MMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSY LEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSK NLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDP NQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDP EGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGL TKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALF LKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL LK hide sequence

RefSeq Acc Id:	NP_001308786 ⟸ NM_001321857
- Peptide Label:	isoform 2
- UniProtKB:	A0A8V8TPQ9 (UniProtKB/TrEMBL), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEVQGAQKQFKNFQIEVQKGRYSLHGSD RSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFDR ILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAASM MRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSYL EDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSKN LSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDPN QRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDPE GDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLPS GSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGLT KAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALFL KMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEALL K hide sequence

RefSeq Acc Id:	NP_001308784 ⟸ NM_001321855
- Peptide Label:	isoform 1
- UniProtKB:	P23458 (UniProtKB/Swiss-Prot), Q59GQ2 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRA AQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWR HSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGM AVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRINNVFKDFLKEFNNKTI CDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMNWFHSNDGGNVLYYEVMVTGN LGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHIVIKESVVSI NKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEY AINKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGS DRSFPSLGDLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFD RILKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAAS MMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSY LEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSK NLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDP NQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDP EGDNTGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGL TKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALF LKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEAL LK hide sequence

Ensembl Acc Id:

ENSP00000500878 ⟸ ENST00000673046

Ensembl Acc Id:

ENSP00000500011 ⟸ ENST00000673502

Ensembl Acc Id:

ENSP00000500476 ⟸ ENST00000673254

Ensembl Acc Id:

ENSP00000499942 ⟸ ENST00000673246

Ensembl Acc Id:

ENSP00000500422 ⟸ ENST00000673220

Ensembl Acc Id:

ENSP00000343204 ⟸ ENST00000342505

Ensembl Acc Id:

ENSP00000500841 ⟸ ENST00000671954

Ensembl Acc Id:

ENSP00000500485 ⟸ ENST00000671929

Ensembl Acc Id:

ENSP00000500065 ⟸ ENST00000671746

Ensembl Acc Id:

ENSP00000499884 ⟸ ENST00000672247

Ensembl Acc Id:

ENSP00000500296 ⟸ ENST00000672179

Ensembl Acc Id:

ENSP00000500328 ⟸ ENST00000672099

Ensembl Acc Id:

ENSP00000500745 ⟸ ENST00000672751

Ensembl Acc Id:

ENSP00000500714 ⟸ ENST00000672574

Ensembl Acc Id:

ENSP00000499900 ⟸ ENST00000672434

RefSeq Acc Id:	XP_047275632 ⟸ XM_047419676
- Peptide Label:	isoform X2
- UniProtKB:	A0A8V8TPQ9 (UniProtKB/TrEMBL), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047275633 ⟸ XM_047419677
- Peptide Label:	isoform X2
- UniProtKB:	A0A8V8TPQ9 (UniProtKB/TrEMBL), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047275631 ⟸ XM_047419675
- Peptide Label:	isoform X1
- UniProtKB:	Q59GQ2 (UniProtKB/Swiss-Prot), P23458 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047275630 ⟸ XM_047419674
- Peptide Label:	isoform X1
- UniProtKB:	Q59GQ2 (UniProtKB/Swiss-Prot), P23458 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000514243 ⟸ ENST00000699262

Ensembl Acc Id:

ENSP00000514292 ⟸ ENST00000699313

Ensembl Acc Id:

ENSP00000514289 ⟸ ENST00000699310

Ensembl Acc Id:

ENSP00000514240 ⟸ ENST00000699259

Ensembl Acc Id:

ENSP00000514244 ⟸ ENST00000699263

Ensembl Acc Id:

ENSP00000514242 ⟸ ENST00000699261

Ensembl Acc Id:

ENSP00000514241 ⟸ ENST00000699260

Ensembl Acc Id:

ENSP00000514291 ⟸ ENST00000699312

Ensembl Acc Id:

ENSP00000514294 ⟸ ENST00000699314

Ensembl Acc Id:

ENSP00000514290 ⟸ ENST00000699311

RefSeq Acc Id:	XP_054192402 ⟸ XM_054336427
- Peptide Label:	isoform X2
- UniProtKB:	A0A8V8TPQ9 (UniProtKB/TrEMBL), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054192403 ⟸ XM_054336428
- Peptide Label:	isoform X2
- UniProtKB:	A0A8V8TPQ9 (UniProtKB/TrEMBL), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054192401 ⟸ XM_054336426
- Peptide Label:	isoform X1
- UniProtKB:	Q59GQ2 (UniProtKB/Swiss-Prot), P23458 (UniProtKB/Swiss-Prot), Q9UD26 (UniProtKB/Swiss-Prot), A0A0A0N0M2 (UniProtKB/TrEMBL), A0A5F9ZI39 (UniProtKB/TrEMBL)

Protein Domains

FERM Protein kinase SH2

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P23458-F1-model_v2	AlphaFold	P23458	1-1154	view protein structure

Promoters

RGD ID:

6785814

Promoter ID:

HG_KWN:3091

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000025788

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	65,102,391 - 65,102,891 (-)	MPROMDB

RGD ID:

6785812

Promoter ID:

HG_KWN:3094

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_002227, UC009WAM.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	65,204,444 - 65,204,944 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:6190	AgrOrtholog
COSMIC	JAK1	COSMIC
Ensembl Genes	ENSG00000162434	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000342505	ENTREZGENE
	ENST00000342505.5	UniProtKB/Swiss-Prot
	ENST00000671746.2	UniProtKB/TrEMBL
	ENST00000671929.2	UniProtKB/Swiss-Prot
	ENST00000671954.2	UniProtKB/Swiss-Prot
	ENST00000672099.1	UniProtKB/TrEMBL
	ENST00000672179	ENTREZGENE
	ENST00000672179.2	UniProtKB/Swiss-Prot
	ENST00000672247	ENTREZGENE
	ENST00000672247.2	UniProtKB/Swiss-Prot
	ENST00000672434	ENTREZGENE
	ENST00000672434.2	UniProtKB/Swiss-Prot
	ENST00000672574.2	UniProtKB/TrEMBL
	ENST00000672751	ENTREZGENE
	ENST00000672751.1	UniProtKB/TrEMBL
	ENST00000672751.2	UniProtKB/Swiss-Prot
	ENST00000673046.1	UniProtKB/TrEMBL
	ENST00000673220.1	UniProtKB/TrEMBL
	ENST00000673246.2	UniProtKB/TrEMBL
	ENST00000673254.1	UniProtKB/TrEMBL
	ENST00000699259.1	UniProtKB/TrEMBL
	ENST00000699260	ENTREZGENE
	ENST00000699260.1	UniProtKB/TrEMBL
	ENST00000699261.1	UniProtKB/TrEMBL
	ENST00000699262	ENTREZGENE
	ENST00000699262.1	UniProtKB/Swiss-Prot
	ENST00000699263.1	UniProtKB/TrEMBL
	ENST00000699310.1	UniProtKB/TrEMBL
	ENST00000699311.1	UniProtKB/TrEMBL
	ENST00000699312	ENTREZGENE
	ENST00000699312.1	UniProtKB/Swiss-Prot
	ENST00000699313.1	UniProtKB/TrEMBL
	ENST00000699314.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.505.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Phosphorylase Kinase, domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000162434	GTEx
HGNC ID	HGNC:6190	ENTREZGENE
Human Proteome Map	JAK1	Human Proteome Map
InterPro	Band_41_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_central	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_F1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_F2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	JAK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Jak1_PHL_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kinase-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Prot_kinase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Protein_kinase_ATP_BS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ser-Thr/Tyr_kinase_cat_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH2_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tyr_kinase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tyr_kinase_cat_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tyr_kinase_non-rcpt_Jak/Tyk2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tyr_kinase_non-rcpt_Jak1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:3716	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	3716	ENTREZGENE
OMIM	147795	OMIM
PANTHER	TYROSINE-PROTEIN KINASE HOPSCOTCH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TYROSINE-PROTEIN KINASE JAK1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FERM_F1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FERM_F2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Jak1_Phl	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pkinase_Tyr	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH2_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA29988	PharmGKB
PIRSF	TyrPK_Jak	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS	JANUSKINASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	JANUSKINASE1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TYRKINASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	FERM_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_ATP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_DOM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_TYR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	B41	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TyrKc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	PH domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47031	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF55550	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF56112	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A0N0M2	ENTREZGENE, UniProtKB/TrEMBL
	A0A5F9ZH07_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZH73_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHI1_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHK2_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHN8_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZHW0_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZI01_HUMAN	UniProtKB/TrEMBL
	A0A5F9ZI39	ENTREZGENE, UniProtKB/TrEMBL
	A0A8V8TMY8_HUMAN	UniProtKB/TrEMBL
	A0A8V8TN11_HUMAN	UniProtKB/TrEMBL
	A0A8V8TN56_HUMAN	UniProtKB/TrEMBL
	A0A8V8TPG3_HUMAN	UniProtKB/TrEMBL
	A0A8V8TPQ9	ENTREZGENE, UniProtKB/TrEMBL
	JAK1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q0VGA4_HUMAN	UniProtKB/TrEMBL
	Q4LDX3_HUMAN	UniProtKB/TrEMBL
	Q59GQ2	ENTREZGENE
	Q6P669_HUMAN	UniProtKB/TrEMBL
	Q8IV82_HUMAN	UniProtKB/TrEMBL
	Q9UD26	ENTREZGENE
UniProt Secondary	Q59GQ2	UniProtKB/Swiss-Prot
	Q9UD26	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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