PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1) - Rat Genome Database

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Gene: PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1) Homo sapiens
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Symbol: PIK3R1
Name: phosphoinositide-3-kinase regulatory subunit 1
RGD ID: 731958
HGNC Page HGNC:8979
Description: Enables several functions, including insulin binding activity; phosphotyrosine residue binding activity; and signaling receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of RNA metabolic process; and regulation of signal transduction. Located in cytoplasm and phosphatidylinositol 3-kinase complex, class IA. Implicated in several diseases, including SHORT syndrome; agammaglobulinemia 7; astroblastoma; endometrial cancer (multiple); and immunodeficiency 36. Biomarker of arthritis (multiple); astroblastoma; carcinoma (multiple); colorectal cancer; and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGM7; GRB1; growth factor receptor bound 1; IMD36; p85; p85-ALPHA; p85alpha; phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha; phosphatidylinositol 3-kinase regulatory subunit alpha; phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1; phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha); phosphatidylinositol 3-kinase, regulatory, 1; phosphatidylinositol 3-kinase-associated p-85 alpha; phosphoinositide-3-kinase regulatory subunit; phosphoinositide-3-kinase regulatory subunit alpha; phosphoinositide-3-kinase, regulatory subunit 1 (alpha); PI3 kinase-associated p85; PI3-kinase regulatory subunit alpha; PI3-kinase subunit p85-alpha; PI3K regulatory subunit alpha; ptdIns-3-kinase regulatory subunit alpha; ptdIns-3-kinase regulatory subunit p85-alpha
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38568,215,756 - 68,301,821 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl568,215,740 - 68,301,821 (+)EnsemblGRCh38hg38GRCh38
GRCh37567,511,584 - 67,597,649 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36567,558,218 - 67,633,405 (+)NCBINCBI36Build 36hg18NCBI36
Build 34567,622,250 - 67,633,403NCBI
Celera564,520,829 - 64,597,175 (+)NCBICelera
Cytogenetic Map5q13.1NCBI
HuRef564,468,818 - 64,555,164 (+)NCBIHuRef
CHM1_1567,511,846 - 67,597,747 (+)NCBICHM1_1
T2T-CHM13v2.0569,037,928 - 69,124,117 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-monopalmitoylglycerol  (EXP)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,5-hexanedione  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (EXP)
3-methylcholanthrene  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (ISO)
4-nitroquinoline N-oxide  (ISO)
4-tert-butylphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
albuterol  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
angelicin  (ISO)
anthocyanin  (ISO)
antimonite  (EXP)
arecoline  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
atazanavir sulfate  (EXP)
ATP  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bexarotene  (EXP)
bilirubin IXalpha  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP)
bisphenol F  (ISO)
bromobenzene  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
cantharidin  (EXP)
capsaicin  (ISO)
capsazepine  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
celastrol  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chitosan  (EXP)
chlorogenic acid  (ISO)
chromium atom  (ISO)
ciguatoxin CTX1B  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
coenzyme Q10  (ISO)
conjugated linoleic acid  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
daunorubicin  (EXP)
deoxycholic acid  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (EXP,ISO)
Di-n-octyl phthalate  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP,ISO)
diethyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
disodium selenite  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (ISO)
emodin  (ISO)
endosulfan  (EXP)
entinostat  (EXP)
ethanol  (ISO)
eugenol  (ISO)
ferulic acid  (ISO)
folic acid  (EXP,ISO)
fonofos  (EXP)
formaldehyde  (EXP)
formoterol fumarate  (ISO)
fructose  (ISO)
fulvestrant  (ISO)
furan  (ISO)
Garcinol  (EXP)
gedunin  (EXP)
geldanamycin  (EXP)
geraniol  (ISO)
Gingerenone A  (ISO)
glucose  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glyphosate  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
hesperidin  (ISO)
HU-308  (ISO)
hydrazines  (ISO)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP)
inulin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
iron(2+) sulfate (anhydrous)  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
lactulose  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
linsidomine  (ISO)
lipopolysaccharide  (EXP)
LY294002  (EXP,ISO)
maculosin  (ISO)
melatonin  (ISO)
melphalan  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
mevinphos  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
N-acetyl-L-cysteine  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nefazodone  (EXP)
Neferine  (EXP,ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
Nonylphenol  (ISO)
Nookatone  (ISO)
obeticholic acid  (EXP)
olanzapine  (ISO)
oxybenzone  (EXP)
ozone  (EXP,ISO)
paeoniflorin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (EXP,ISO)
procyanidin B1  (EXP)
propiconazole  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
quercitrin  (EXP)
rac-1-monopalmitoylglycerol  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
retinyl acetate  (ISO)
rivastigmine  (ISO)
rotenone  (ISO)
ruthenium red  (ISO)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
succimer  (ISO)
swainsonine  (ISO)
tamoxifen  (ISO)
Tanshinone I  (ISO)
taraxasterol  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetrathiomolybdate(2-)  (EXP)
thiazolidinediones  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trans-caffeic acid  (ISO)
trans-cinnamic acid  (ISO)
tremolite asbestos  (ISO)
trichostatin A  (EXP)
triclosan  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tungsten  (ISO)
tunicamycin  (ISO)
tyrphostin AG 1478  (ISO)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (EXP)
wortmannin  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell differentiation  (IEA,ISO,NAS)
cellular response to fatty acid  (ISO)
cellular response to insulin stimulus  (IDA,IEA,ISO,ISS)
cellular response to UV  (IEA,ISO)
cytokine-mediated signaling pathway  (IGI)
extrinsic apoptotic signaling pathway via death domain receptors  (IEA,ISO)
glucose metabolic process  (ISO)
growth hormone receptor signaling pathway  (IDA)
immune response  (NAS)
insulin receptor signaling pathway  (IBA,IEA,ISO)
insulin-like growth factor receptor signaling pathway  (IDA,IEA,IPI,ISO)
interleukin-18-mediated signaling pathway  (IMP)
intracellular glucose homeostasis  (IEA,ISS)
intracellular receptor signaling pathway  (IEA)
intrinsic apoptotic signaling pathway in response to DNA damage  (IEA,ISO)
myeloid leukocyte migration  (IEA,ISO)
natural killer cell mediated cytotoxicity  (IDA)
negative regulation of apoptotic process  (IEA,IMP,ISO)
negative regulation of blood pressure  (ISO)
negative regulation of cell adhesion  (IEA,ISO)
negative regulation of cell-cell adhesion  (ISO)
negative regulation of cell-matrix adhesion  (IEA,ISO)
negative regulation of heart rate  (ISO)
negative regulation of muscle cell apoptotic process  (ISO)
negative regulation of osteoclast differentiation  (IEA,ISO)
negative regulation of proteolysis  (ISO)
negative regulation of smooth muscle cell proliferation  (ISO)
negative regulation of stress fiber assembly  (IEA,ISS)
osteoclast differentiation  (IEA,ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA,IMP,ISS)
phosphatidylinositol metabolic process  (ISO)
phosphatidylinositol phosphate biosynthetic process  (IBA,IEA,ISS)
positive regulation of cell migration  (ISO)
positive regulation of endoplasmic reticulum unfolded protein response  (IMP)
positive regulation of filopodium assembly  (IEA,ISS)
positive regulation of focal adhesion disassembly  (IEA,ISS)
positive regulation of gene expression  (ISO)
positive regulation of glucose import  (ISS)
positive regulation of lamellipodium assembly  (IEA,ISS)
positive regulation of leukocyte migration  (IEA,ISO)
positive regulation of myoblast differentiation  (ISO)
positive regulation of protein import into nucleus  (IDA,IEA)
positive regulation of protein localization to plasma membrane  (ISS)
positive regulation of protein phosphorylation  (ISO)
positive regulation of RNA splicing  (IMP)
positive regulation of smooth muscle cell proliferation  (IMP)
positive regulation of synapse assembly  (ISO)
positive regulation of transcription by RNA polymerase II  (IEA,IMP,ISO,ISS)
positive regulation of tumor necrosis factor production  (IEA,ISO)
protein import into nucleus  (IEA,ISO)
protein stabilization  (IDA)
protein transport  (IEA)
regulation of DNA-templated transcription  (IEA)
regulation of protein localization to plasma membrane  (IEA,ISO)
regulation of stress fiber assembly  (IEA,ISO)
regulation of toll-like receptor 4 signaling pathway  (IDA)
response to amino acid  (ISO)
response to cAMP  (ISO)
response to dexamethasone  (ISO)
response to endoplasmic reticulum stress  (IDA,IEA,ISS)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to fatty acid  (ISO)
response to fructose  (ISO)
response to glucocorticoid  (ISO)
response to growth factor  (ISO)
response to insulin  (ISO)
response to iron(II) ion  (ISO)
response to nutrient  (ISO)
response to progesterone  (ISO)
response to testosterone  (ISO)
response to xenobiotic stimulus  (ISO)
response to yeast  (ISO)
signal transduction  (IEA)
substrate adhesion-dependent cell spreading  (ISS)
T cell differentiation  (NAS)
transcription by RNA polymerase II  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acute myeloid leukemia pathway   (IEA)
aldosterone signaling pathway  (IEA)
apoptotic cell death pathway  (IEA)
B cell receptor signaling pathway  (IEA)
ceramide signaling pathway  (IEA)
Chagas disease pathway  (IEA)
chronic myeloid leukemia pathway   (IEA)
colorectal cancer pathway  (IEA)
E-cadherin signaling pathway   (EXP)
endometrial cancer pathway  (IEA)
Entamoebiasis pathway  (IEA)
ephrin - ephrin receptor bidirectional signaling axis   (EXP)
epidermal growth factor/neuregulin signaling pathway  (EXP,IEA,TAS)
erythropoietin signaling pathway   (EXP)
FasL mediated signaling pathway  (EXP)
Fc epsilon receptor mediated signaling pathway  (EXP)
fibroblast growth factor signaling pathway  (EXP)
glioma pathway  (IEA)
granulocyte-macrophage colony-stimulating factor signaling pathway   (EXP)
Hedgehog signaling pathway  (EXP)
hepatitis C pathway   (IEA)
insulin signaling pathway  (EXP,IEA,ISO)
insulin-like growth factor signaling pathway   (EXP)
interleukin-1 signaling pathway  (EXP)
interleukin-2 signaling pathway  (EXP)
interleukin-23 signaling pathway  (EXP)
interleukin-3 signaling pathway  (EXP)
interleukin-4 signaling pathway  (EXP)
interleukin-5 signaling pathway   (EXP)
interleukin-6 signaling pathway   (EXP)
Jak-Stat signaling pathway  (IEA)
measles pathway  (IEA)
melanoma pathway   (IEA)
mTOR signaling pathway  (IEA)
N-cadherin signaling pathway  (EXP)
neurotrophic factor signaling pathway   (IEA)
non-small cell lung carcinoma pathway   (IEA)
nuclear factor kappa B signaling pathway   (EXP)
pancreatic cancer pathway  (IEA)
phosphatidylinositol 3-kinase class I signaling pathway  (EXP)
phosphatidylinositol 3-kinase signaling pathway   (IEA)
phosphatidylinositol 3-kinase-Akt signaling pathway  (TAS)
phosphoinositide metabolic pathway  (EXP)
platelet-derived growth factor signaling pathway   (EXP)
prostate cancer pathway   (IEA)
Reelin signaling pathway   (EXP,ISO)
renal cell carcinoma pathway   (IEA)
scatter factor/hepatocyte growth factor signaling pathway  (TAS)
small cell lung carcinoma pathway  (IEA)
T cell receptor signaling pathway   (IEA)
Toll-like receptor signaling pathway  (IEA)
toxoplasmosis pathway   (IEA)
Trail mediated signaling pathway   (EXP)
type 2 diabetes mellitus pathway  (IEA)
type II interferon signaling pathway   (EXP)
vascular endothelial growth factor signaling pathway  (EXP,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal anterior chamber morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormal mandible morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormal T cell morphology  (IAGP)
Abnormal zygomatic bone morphology  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the immune system  (IAGP)
Absence of subcutaneous fat  (IAGP)
Agammaglobulinemia  (IAGP)
Alopecia  (IAGP)
Arthritis  (IAGP)
Astigmatism  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
B lymphocytopenia  (IAGP)
B-cell lymphoma  (IAGP)
Birth length less than 3rd percentile  (IAGP)
Brachydactyly  (IAGP)
Brain neoplasm  (IAGP)
Bronchiectasis  (IAGP)
Cataract  (IAGP)
Cellulitis  (IAGP)
Childhood onset  (IAGP)
Chronic diarrhea  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Chronic otitis media  (IAGP)
Chronic sinusitis  (IAGP)
Clinodactyly  (IAGP)
Colon cancer  (IAGP)
Conjunctivitis  (IAGP)
Corneal opacity  (IAGP)
Cough  (IAGP)
Cutaneous melanoma  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased proportion of naive CD4 T cells  (IAGP)
Decreased proportion of naive CD8 T cells  (IAGP)
Deeply set eye  (IAGP)
Dehydration  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dimple chin  (IAGP)
Downturned corners of mouth  (IAGP)
Enlarged epiphyses  (IAGP)
Enlarged tonsils  (IAGP)
Epicanthus  (IAGP)
Erythema nodosum  (IAGP)
Esotropia  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Frontal bossing  (IAGP)
Glaucoma  (IAGP)
Glioblastoma multiforme  (IAGP)
Glucose intolerance  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatitis  (IAGP)
Hepatomegaly  (IAGP)
High hypermetropia  (IAGP)
High palate  (IAGP)
Hyperglycemia  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the iris  (IAGP)
Immunodeficiency  (IAGP)
Increased circulating IgM level  (IAGP)
Increased proportion of transitional B cells  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Insulin resistance  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal lymphoid nodular hyperplasia  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Lipoatrophy  (IAGP)
Lipodystrophy  (IAGP)
Low-set ears  (IAGP)
Lymphadenopathy  (IAGP)
Lymphoma  (IAGP)
Lymphopenia  (IAGP)
Macrotia  (IAGP)
Malabsorption  (IAGP)
Malar flattening  (IAGP)
Megalocornea  (IAGP)
Meningitis  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Myopia  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neurodevelopmental delay  (IAGP)
Neutropenia  (IAGP)
Osteomyelitis  (IAGP)
Ovarian cyst  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Persistent CMV viremia  (IAGP)
Persistent EBV viremia  (IAGP)
Pneumonia  (IAGP)
Poor appetite  (IAGP)
Posterior embryotoxon  (IAGP)
Premature skin wrinkling  (IAGP)
Prominent forehead  (IAGP)
Prominent superficial veins  (IAGP)
Prominent supraorbital ridges  (IAGP)
Prostate cancer  (IAGP)
Radial deviation of finger  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent skin infections  (IAGP)
Recurrent tonsillitis  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Reduced natural killer cell count  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Rieger anomaly  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Severe cytomegalovirus infection  (IAGP)
Severe Epstein Barr virus infection  (IAGP)
Severe short stature  (IAGP)
Severe varicella zoster infection  (IAGP)
Short chin  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Sinusitis  (IAGP)
Skin rash  (IAGP)
Slender long bone  (IAGP)
Small for gestational age  (IAGP)
Sparse hair  (IAGP)
Splenomegaly  (IAGP)
Telecanthus  (IAGP)
Thin skin  (IAGP)
Triangular face  (IAGP)
Underdeveloped nasal alae  (IAGP)
Verrucae  (IAGP)
Weight loss  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
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Additional References at PubMed
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PMID:27693481   PMID:27701424   PMID:27708159   PMID:27766312   PMID:27819673   PMID:27827315   PMID:27880917   PMID:27927989   PMID:28104464   PMID:28108251   PMID:28124643   PMID:28167755  
PMID:28169297   PMID:28205554   PMID:28205613   PMID:28319113   PMID:28351303   PMID:28380382   PMID:28381646   PMID:28394344   PMID:28462395   PMID:28514442   PMID:28561224   PMID:28630349  
PMID:28632845   PMID:28676490   PMID:28676499   PMID:28785028   PMID:29178053   PMID:29190819   PMID:29208003   PMID:29212245   PMID:29395067   PMID:29494137   PMID:29507755   PMID:29513927  
PMID:29526746   PMID:29568061   PMID:29636477   PMID:29662076   PMID:29677490   PMID:29724723   PMID:29740032   PMID:29893513   PMID:29991678   PMID:30240640   PMID:30497511   PMID:30630630  
PMID:30691859   PMID:30755611   PMID:30762338   PMID:30858483   PMID:30927924   PMID:30940648   PMID:31031754   PMID:31059194   PMID:31091453   PMID:31209687   PMID:31401412   PMID:31608772  
PMID:31617661   PMID:31635307   PMID:31660072   PMID:31678930   PMID:31753913   PMID:31828111   PMID:31831213   PMID:31871319   PMID:31878075   PMID:31959764   PMID:32062451   PMID:32075097  
PMID:32193760   PMID:32203420   PMID:32296183   PMID:32562373   PMID:32602265   PMID:32606397   PMID:32681842   PMID:32707033   PMID:32877691   PMID:32936972   PMID:33221758   PMID:33292627  
PMID:33420362   PMID:33512474   PMID:33957083   PMID:33961781   PMID:33991522   PMID:34017080   PMID:34040190   PMID:34077942   PMID:34079125   PMID:34098850   PMID:34145035   PMID:34216514  
PMID:34390320   PMID:34432599   PMID:34507989   PMID:34591612   PMID:34591642   PMID:34668023   PMID:34709727   PMID:34741385   PMID:34831026   PMID:34922003   PMID:34967502   PMID:35044719  
PMID:35271311   PMID:35384245   PMID:35395865   PMID:35429500   PMID:35563538   PMID:35670774   PMID:35676246   PMID:35755276   PMID:35789397   PMID:35831314   PMID:35871160   PMID:35914814  
PMID:36337049   PMID:36724073   PMID:36934165   PMID:36943234   PMID:37479901   PMID:37628845   PMID:37689825   PMID:37875355   PMID:38141889   PMID:38153569   PMID:38388383  


Genomics

Comparative Map Data
PIK3R1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38568,215,756 - 68,301,821 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl568,215,740 - 68,301,821 (+)EnsemblGRCh38hg38GRCh38
GRCh37567,511,584 - 67,597,649 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36567,558,218 - 67,633,405 (+)NCBINCBI36Build 36hg18NCBI36
Build 34567,622,250 - 67,633,403NCBI
Celera564,520,829 - 64,597,175 (+)NCBICelera
Cytogenetic Map5q13.1NCBI
HuRef564,468,818 - 64,555,164 (+)NCBIHuRef
CHM1_1567,511,846 - 67,597,747 (+)NCBICHM1_1
T2T-CHM13v2.0569,037,928 - 69,124,117 (+)NCBIT2T-CHM13v2.0
Pik3r1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913101,817,269 - 101,904,725 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13101,817,071 - 101,904,725 (-)EnsemblGRCm39 Ensembl
GRCm3813101,680,761 - 101,768,217 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13101,680,563 - 101,768,217 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713102,450,716 - 102,538,172 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613102,781,018 - 102,792,904 (-)NCBIMGSCv36mm8
Celera13105,285,857 - 105,373,612 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1353.92NCBI
Pik3r1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8234,612,946 - 34,697,660 (-)NCBIGRCr8
mRatBN7.2232,878,942 - 32,963,668 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl232,882,032 - 32,963,631 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx240,014,126 - 40,099,015 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0238,073,343 - 38,158,218 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0232,921,198 - 33,006,089 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0231,742,326 - 31,826,882 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl231,745,088 - 31,826,867 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0250,891,225 - 50,965,217 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4232,602,673 - 32,675,350 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1232,523,041 - 32,595,719 (-)NCBI
Celera228,878,690 - 28,948,863 (-)NCBICelera
RH 3.4 Map2111.0RGD
Cytogenetic Map2q12NCBI
Pik3r1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554461,020,043 - 1,098,820 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554461,020,707 - 1,098,327 (-)NCBIChiLan1.0ChiLan1.0
PIK3R1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2445,620,454 - 45,705,861 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1543,777,000 - 43,859,488 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0545,701,219 - 45,786,652 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1547,268,477 - 47,350,960 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl547,267,286 - 47,350,960 (-)Ensemblpanpan1.1panPan2
PIK3R1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1253,447,802 - 53,527,563 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl253,448,286 - 53,524,970 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha250,408,936 - 50,489,628 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0253,951,256 - 54,032,010 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl253,960,673 - 54,031,993 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1251,011,708 - 51,092,420 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0251,791,194 - 51,871,863 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0252,678,736 - 52,759,442 (+)NCBIUU_Cfam_GSD_1.0
Pik3r1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213192,252,011 - 192,336,736 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364801,188,183 - 1,273,537 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364801,188,408 - 1,273,210 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIK3R1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1646,511,521 - 46,523,609 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11646,434,757 - 46,523,626 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21650,135,837 - 50,148,434 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIK3R1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1464,321,296 - 64,406,188 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl464,321,078 - 64,406,519 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604913,008,003 - 13,093,192 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pik3r1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248151,289,997 - 1,369,610 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248151,290,106 - 1,376,961 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIK3R1
480 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181523.3(PIK3R1):c.1425+2_1425+3del deletion Immunodeficiency 36 [RCV000515770] Chr5:68293835..68293836 [GRCh38]
Chr5:67589663..67589664 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1685G>A (p.Arg562His) single nucleotide variant not provided [RCV000520644] Chr5:68295264 [GRCh38]
Chr5:67591092 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1425+2T>G single nucleotide variant Immunodeficiency 36 [RCV000515763]|not provided [RCV001815343] Chr5:68293836 [GRCh38]
Chr5:67589664 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) single nucleotide variant Agammaglobulinemia 7, autosomal recessive [RCV000041966]|SHORT syndrome [RCV001388977] Chr5:68280983 [GRCh38]
Chr5:67576811 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1355_1365delinsTTCAAGAAAAAAGTTTCTTGAAA (p.Tyr452_Gln455delinsPheGlnGluLysSerPheLeuLys) indel Vascular Malformations and Overgrowth [RCV001290350] Chr5:68293764..68293774 [GRCh38]
Chr5:67589592..67589602 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) single nucleotide variant SHORT syndrome [RCV000547518]|not provided [RCV003424105] Chr5:68292303 [GRCh38]
Chr5:67588131 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) single nucleotide variant SHORT syndrome [RCV000548238]|not provided [RCV001310503] Chr5:68280580 [GRCh38]
Chr5:67576408 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) microsatellite Inborn genetic diseases [RCV000623355]|SHORT syndrome [RCV000054532] Chr5:68295191..68295193 [GRCh38]
Chr5:67591019..67591021 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic|uncertain significance
NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) single nucleotide variant SHORT syndrome [RCV000054533] Chr5:68294575 [GRCh38]
Chr5:67590403 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) single nucleotide variant Immunodeficiency 36 [RCV001197921]|Inborn genetic diseases [RCV001265992]|SHORT syndrome [RCV000054534]|SHORT syndrome [RCV000515192]|not provided [RCV000414540] Chr5:68296301 [GRCh38]
Chr5:67592129 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1 copy number loss See cases [RCV000051223] Chr5:64932763..69495504 [GRCh38]
Chr5:64228590..68791331 [GRCh37]
Chr5:64264346..68827087 [NCBI36]
Chr5:5q12.3-13.2		 pathogenic
NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs) duplication SHORT syndrome [RCV000054535] Chr5:68296298..68296299 [GRCh38]
Chr5:67592126..67592127 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1906_1907insC (p.Asn636fs) insertion SHORT syndrome [RCV000054536] Chr5:68296262..68296263 [GRCh38]
Chr5:67592090..67592091 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) single nucleotide variant SHORT syndrome [RCV001516993]|not provided [RCV000755596]|not specified [RCV000121812] Chr5:68292320 [GRCh38]
Chr5:67588148 [GRCh37]
Chr5:5q13.1		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val) single nucleotide variant SHORT syndrome [RCV001854670]|not provided [RCV003884353]|not specified [RCV000121813] Chr5:68279625 [GRCh38]
Chr5:67575453 [GRCh37]
Chr5:5q13.1		 uncertain significance|not provided
NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del) deletion CLOVES syndrome [RCV002221158]|Vascular Malformations and Overgrowth [RCV001290354] Chr5:68295312..68295317 [GRCh38]
Chr5:67591140..67591145 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
NM_181523.3(PIK3R1):c.1425+1G>T single nucleotide variant Immunodeficiency 36 [RCV000144065]|SHORT syndrome [RCV001218386]|not provided [RCV000349198] Chr5:68293835 [GRCh38]
Chr5:67589663 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1425+1G>C single nucleotide variant Immunodeficiency 36 [RCV000144066]|Inborn genetic diseases [RCV000623166]|SHORT syndrome [RCV000800719]|See cases [RCV003156075]|not specified [RCV000508456] Chr5:68293835 [GRCh38]
Chr5:67589663 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1939C>A (p.Leu647Ile) single nucleotide variant Malignant tumor of prostate [RCV000149380] Chr5:68296295 [GRCh38]
Chr5:67592123 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile) single nucleotide variant SHORT syndrome [RCV000147273] Chr5:68293187 [GRCh38]
Chr5:67589015 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) single nucleotide variant SHORT syndrome [RCV000638599]|not provided [RCV001707535]|not specified [RCV000147274] Chr5:68293360 [GRCh38]
Chr5:67589188 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) single nucleotide variant SHORT syndrome [RCV000558342]|not provided [RCV000836840]|not specified [RCV000147275] Chr5:68297535 [GRCh38]
Chr5:67593363 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) single nucleotide variant Agammaglobulinemia 7, autosomal recessive [RCV001788046]|Immunodeficiency 36 [RCV001788048]|SHORT syndrome [RCV001520308]|SHORT syndrome [RCV001788047]|not provided [RCV001657840]|not specified [RCV000147276] Chr5:68226894 [GRCh38]
Chr5:67522722 [GRCh37]
Chr5:5q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181523.3(PIK3R1):c.334+14A>C single nucleotide variant Agammaglobulinemia 7, autosomal recessive [RCV001788049]|Immunodeficiency 36 [RCV001788051]|SHORT syndrome [RCV001511909]|SHORT syndrome [RCV001788050]|not provided [RCV001812118]|not specified [RCV000147277] Chr5:68227023 [GRCh38]
Chr5:67522851 [GRCh37]
Chr5:5q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) single nucleotide variant SHORT syndrome [RCV000551418]|not provided [RCV001719922]|not specified [RCV000147278] Chr5:68279720 [GRCh38]
Chr5:67575548 [GRCh37]
Chr5:5q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3 copy number gain See cases [RCV000135640] Chr5:63207112..71291191 [GRCh38]
Chr5:62502939..70587018 [GRCh37]
Chr5:62538695..70622774 [NCBI36]
Chr5:5q12.1-13.2		 likely pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
NM_181523.3(PIK3R1):c.1906_1907del (p.Asn636fs) deletion SHORT syndrome [RCV000202470] Chr5:68296260..68296261 [GRCh38]
Chr5:67592088..67592089 [GRCh37]
Chr5:5q13.1		 pathogenic|not provided
NM_181523.3(PIK3R1):c.1971T>G (p.Tyr657Ter) single nucleotide variant SHORT syndrome [RCV000202477] Chr5:68296327 [GRCh38]
Chr5:67592155 [GRCh37]
Chr5:5q13.1		 pathogenic|not provided
GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3 copy number gain See cases [RCV000142796] Chr5:65976124..71317474 [GRCh38]
Chr5:65271952..70613301 [GRCh37]
Chr5:65307708..70649057 [NCBI36]
Chr5:5q12.3-13.2		 uncertain significance
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln) single nucleotide variant SHORT syndrome [RCV000202555] Chr5:68296248 [GRCh38]
Chr5:67592076 [GRCh37]
Chr5:5q13.1		 pathogenic|not provided
NM_181523.3(PIK3R1):c.*3C>T single nucleotide variant PIK3R1-related condition [RCV003917766]|not provided [RCV003422098]|not specified [RCV000192893] Chr5:68297604 [GRCh38]
Chr5:67593432 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.1460T>C (p.Phe487Ser) single nucleotide variant SHORT syndrome [RCV000191118] Chr5:68294570 [GRCh38]
Chr5:67590398 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) single nucleotide variant SHORT syndrome [RCV000545810] Chr5:68226877 [GRCh38]
Chr5:67522705 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1425+2T>A single nucleotide variant Immunodeficiency 36 [RCV000515774]|SHORT syndrome [RCV002527446] Chr5:68293836 [GRCh38]
Chr5:67589664 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1300-1G>C single nucleotide variant Immunodeficiency 36 [RCV000515775] Chr5:68293708 [GRCh38]
Chr5:67589536 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.837-7C>T single nucleotide variant SHORT syndrome [RCV000528873]|not provided [RCV001573476] Chr5:68280920 [GRCh38]
Chr5:67576748 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.25A>G (p.Arg9Gly) single nucleotide variant not provided [RCV000403930] Chr5:68226700 [GRCh38]
Chr5:67522528 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.-280A>G single nucleotide variant not provided [RCV001571492] Chr5:68226396 [GRCh38]
Chr5:67522224 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) single nucleotide variant SHORT syndrome [RCV001087064]|not provided [RCV000659016] Chr5:68293369 [GRCh38]
Chr5:67589197 [GRCh37]
Chr5:5q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_181523.3(PIK3R1):c.251C>T (p.Pro84Leu) single nucleotide variant not provided [RCV000523622] Chr5:68226926 [GRCh38]
Chr5:67522754 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) single nucleotide variant PIK3R1-related condition [RCV003935446]|SHORT syndrome [RCV000532886]|not provided [RCV001574546] Chr5:68226870 [GRCh38]
Chr5:67522698 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.1019+6G>C single nucleotide variant SHORT syndrome [RCV000638596] Chr5:68292367 [GRCh38]
Chr5:67588195 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1519G>T (p.Glu507Ter) single nucleotide variant not provided [RCV000523719] Chr5:68294629 [GRCh38]
Chr5:67590457 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1425+1G>A single nucleotide variant Immunodeficiency 36 [RCV000515768]|Inborn genetic diseases [RCV001266930]|Inherited Immunodeficiency Diseases [RCV001027613]|PIK3R1-related condition [RCV003922673]|SHORT syndrome [RCV000705809]|SHORT syndrome [RCV000987525]|See cases [RCV003156092]|not provided [RCV000413301] Chr5:68293835 [GRCh38]
Chr5:67589663 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
GRCh37/hg19 5q12.1-13.2(chr5:60722469-70792199)x1 copy number loss See cases [RCV000447549] Chr5:60722469..70792199 [GRCh37]
Chr5:5q12.1-13.2		 pathogenic
NM_181523.3(PIK3R1):c.1568+2T>C single nucleotide variant not provided [RCV000443391] Chr5:68294680 [GRCh38]
Chr5:67590508 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
NM_181523.3(PIK3R1):c.1814+3A>G single nucleotide variant not specified [RCV000424232] Chr5:68295491 [GRCh38]
Chr5:67591319 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) single nucleotide variant Malignant melanoma of skin [RCV000434835]|Malignant neoplasm of body of uterus [RCV000421102]|Neoplasm [RCV000434688]|Neoplasm of brain [RCV000444300]|Neoplasm of the large intestine [RCV000431985]|Vascular Malformations and Overgrowth [RCV001290352]|Vascular malformation [RCV003458427] Chr5:68295269 [GRCh38]
Chr5:67591097 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
NM_181523.3(PIK3R1):c.1748_1750delGGT microsatellite Neoplasm [RCV000424677]|Vascular Malformations and Overgrowth [RCV001290357] Chr5:68295419..68295421 [GRCh38]
Chr5:67591247..67591249 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) single nucleotide variant Neoplasm [RCV000424889]|SHORT syndrome [RCV001309508] Chr5:68295271 [GRCh38]
Chr5:67591099 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic|uncertain significance
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg) single nucleotide variant Glioblastoma [RCV000429204]|Malignant melanoma of skin [RCV000421788]|Neoplasm [RCV000435812]|Neoplasm of brain [RCV000422432]|Uterine carcinosarcoma [RCV000439435] Chr5:68293310 [GRCh38]
Chr5:67589138 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1126G>A (p.Gly376Arg) single nucleotide variant Neoplasm [RCV000425556]|Vascular Malformations and Overgrowth [RCV001290349] Chr5:68293310 [GRCh38]
Chr5:67589138 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
NM_181523.3(PIK3R1):c.1727_1729del (p.Thr576del) deletion Neoplasm [RCV000443639] Chr5:68295304..68295306 [GRCh38]
Chr5:67591132..67591134 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1692C>A (p.Asn564Lys) single nucleotide variant Neoplasm [RCV000418155] Chr5:68295271 [GRCh38]
Chr5:67591099 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1314AGA[1] (p.Glu439del) microsatellite Neoplasm [RCV000422768] Chr5:68293722..68293724 [GRCh38]
Chr5:67589550..67589552 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) single nucleotide variant Neoplasm [RCV000433630]|SHORT syndrome [RCV000799708]|SHORT syndrome [RCV003333061] Chr5:68293790 [GRCh38]
Chr5:67589618 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
NM_181523.3(PIK3R1):c.1678G>T (p.Asp560Tyr) single nucleotide variant Neoplasm [RCV000444575] Chr5:68295257 [GRCh38]
Chr5:67591085 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1678_1695del (p.Asp560_Ser565del) deletion Neoplasm [RCV000427072] Chr5:68295257..68295274 [GRCh38]
Chr5:67591085..67591102 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1042C>T (p.Arg348Ter) single nucleotide variant not provided [RCV000441873] Chr5:68293123 [GRCh38]
Chr5:67588951 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=) single nucleotide variant SHORT syndrome [RCV003766843]|not specified [RCV000503574] Chr5:68279651 [GRCh38]
Chr5:67575479 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance
NM_181523.3(PIK3R1):c.634+6T>C single nucleotide variant SHORT syndrome [RCV000935390]|not specified [RCV000500222] Chr5:68279739 [GRCh38]
Chr5:67575567 [GRCh37]
Chr5:5q13.1		 benign|likely benign|uncertain significance
NM_181523.3(PIK3R1):c.291T>G (p.Val97=) single nucleotide variant not specified [RCV000502444] Chr5:68226966 [GRCh38]
Chr5:67522794 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val) single nucleotide variant SHORT syndrome [RCV001361637]|not specified [RCV000502612] Chr5:68226704 [GRCh38]
Chr5:67522532 [GRCh37]
Chr5:5q13.1		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_181523.3(PIK3R1):c.197G>A (p.Arg66Lys) single nucleotide variant not specified [RCV000506810] Chr5:68226872 [GRCh38]
Chr5:67522700 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.634+8T>C single nucleotide variant SHORT syndrome [RCV000559702]|not provided [RCV001796083] Chr5:68279741 [GRCh38]
Chr5:67575569 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1556A>G (p.Lys519Arg) single nucleotide variant SHORT syndrome [RCV003766781]|not provided [RCV000492804] Chr5:68294666 [GRCh38]
Chr5:67590494 [GRCh37]
Chr5:5q13.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4 copy number gain See cases [RCV000510792] Chr5:58966132..68847066 [GRCh37]
Chr5:5q12.1-13.2		 likely pathogenic
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) single nucleotide variant SHORT syndrome [RCV000534240] Chr5:68279670 [GRCh38]
Chr5:67575498 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) single nucleotide variant SHORT syndrome [RCV000638601] Chr5:68293805 [GRCh38]
Chr5:67589633 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1020-3C>T single nucleotide variant SHORT syndrome [RCV000638597]|not specified [RCV001816586] Chr5:68293098 [GRCh38]
Chr5:67588926 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance
NM_181523.3(PIK3R1):c.1300-10A>C single nucleotide variant SHORT syndrome [RCV000638600] Chr5:68293699 [GRCh38]
Chr5:67589527 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) single nucleotide variant SHORT syndrome [RCV000535880] Chr5:68226740 [GRCh38]
Chr5:67522568 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.911C>T (p.Ala304Val) single nucleotide variant SHORT syndrome [RCV000662009] Chr5:68281001 [GRCh38]
Chr5:67576829 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1020-8C>G single nucleotide variant SHORT syndrome [RCV001502380]|not provided [RCV000659015] Chr5:68293093 [GRCh38]
Chr5:67588921 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance
GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1 copy number loss not provided [RCV000682564] Chr5:65315606..68755816 [GRCh37]
Chr5:5q12.3-13.2		 likely pathogenic
NM_181523.3(PIK3R1):c.635-7C>G single nucleotide variant SHORT syndrome [RCV000702093] Chr5:68280521 [GRCh38]
Chr5:67576349 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) single nucleotide variant SHORT syndrome [RCV000688961] Chr5:68279710 [GRCh38]
Chr5:67575538 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) duplication SHORT syndrome [RCV000692460] Chr5:68295287..68295288 [GRCh38]
Chr5:67591115..67591116 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) single nucleotide variant SHORT syndrome [RCV000697337] Chr5:68279603 [GRCh38]
Chr5:67575431 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala) single nucleotide variant SHORT syndrome [RCV000709969] Chr5:68279635 [GRCh38]
Chr5:67575463 [GRCh37]
Chr5:5q13.1		 not provided
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) single nucleotide variant SHORT syndrome [RCV000698771] Chr5:68280542 [GRCh38]
Chr5:67576370 [GRCh37]
Chr5:5q13.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q13.1(chr5:67494991-67599656)x3 copy number gain not provided [RCV000744778] Chr5:67494991..67599656 [GRCh37]
Chr5:5q13.1		 benign
GRCh37/hg19 5q13.1(chr5:67510015-67512514)x0 copy number loss not provided [RCV000744779] Chr5:67510015..67512514 [GRCh37]
Chr5:5q13.1		 benign
GRCh37/hg19 5q13.1(chr5:67511039-67512081)x0 copy number loss not provided [RCV000744780] Chr5:67511039..67512081 [GRCh37]
Chr5:5q13.1		 benign
GRCh37/hg19 5q13.1(chr5:67511459-67512318)x0 copy number loss not provided [RCV000744781] Chr5:67511459..67512318 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1392_1403del (p.Asp464_Tyr467del) deletion Overgrowth syndrome [RCV003458224]|Vascular Malformations and Overgrowth [RCV001290351] Chr5:68293795..68293806 [GRCh38]
Chr5:67589623..67589634 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu) single nucleotide variant CLOVES syndrome [RCV002226776]|Vascular Malformations and Overgrowth [RCV001290353] Chr5:68295278 [GRCh38]
Chr5:67591106 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
NM_181523.3(PIK3R1):c.1746-6_1751del deletion Vascular Malformations and Overgrowth [RCV001290355] Chr5:68295411..68295422 [GRCh38]
Chr5:67591239..67591250 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1985+38A>C single nucleotide variant not provided [RCV001535345] Chr5:68296379 [GRCh38]
Chr5:67592207 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) single nucleotide variant SHORT syndrome [RCV001070690]|not provided [RCV000762146] Chr5:68279662 [GRCh38]
Chr5:67575490 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.917-3730A>G single nucleotide variant not provided [RCV001643460] Chr5:68288529 [GRCh38]
Chr5:67584357 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) single nucleotide variant SHORT syndrome [RCV001046132] Chr5:68226932 [GRCh38]
Chr5:67522760 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.975T>C (p.Asn325=) single nucleotide variant not provided [RCV000922525] Chr5:68292317 [GRCh38]
Chr5:67588145 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=) single nucleotide variant SHORT syndrome [RCV000884932]|not provided [RCV001171847] Chr5:68297421 [GRCh38]
Chr5:67593249 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.648C>T (p.Ser216=) single nucleotide variant PIK3R1-related condition [RCV003942975]|SHORT syndrome [RCV000945072] Chr5:68280541 [GRCh38]
Chr5:67576369 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=) single nucleotide variant SHORT syndrome [RCV000922239] Chr5:68292359 [GRCh38]
Chr5:67588187 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1413C>T (p.Thr471=) single nucleotide variant SHORT syndrome [RCV001458733] Chr5:68293822 [GRCh38]
Chr5:67589650 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1119-9T>C single nucleotide variant SHORT syndrome [RCV000924551] Chr5:68293294 [GRCh38]
Chr5:67589122 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) single nucleotide variant SHORT syndrome [RCV001061051] Chr5:68280579 [GRCh38]
Chr5:67576407 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) single nucleotide variant Inborn genetic diseases [RCV003363044]|SHORT syndrome [RCV001034852] Chr5:68280645 [GRCh38]
Chr5:67576473 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) single nucleotide variant SHORT syndrome [RCV001055522] Chr5:68273403 [GRCh38]
Chr5:67569231 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance
NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) single nucleotide variant SHORT syndrome [RCV001062385] Chr5:68280569 [GRCh38]
Chr5:67576397 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) single nucleotide variant SHORT syndrome [RCV001053639] Chr5:68296200 [GRCh38]
Chr5:67592028 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) single nucleotide variant SHORT syndrome [RCV001052206] Chr5:68294618 [GRCh38]
Chr5:67590446 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.917-1513G>T single nucleotide variant SHORT syndrome [RCV000768046]|not provided [RCV001796779] Chr5:68290746 [GRCh38]
Chr5:67586574 [GRCh37]
Chr5:5q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_181523.3(PIK3R1):c.917-87A>G single nucleotide variant not provided [RCV001608751] Chr5:68292172 [GRCh38]
Chr5:67588000 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) single nucleotide variant Agammaglobulinemia 7, autosomal recessive [RCV003319991]|SHORT syndrome [RCV001060737] Chr5:68273402 [GRCh38]
Chr5:67569230 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=) single nucleotide variant SHORT syndrome [RCV000940145] Chr5:68226885 [GRCh38]
Chr5:67522713 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1665G>A (p.Glu555=) single nucleotide variant SHORT syndrome [RCV001496769] Chr5:68295244 [GRCh38]
Chr5:67591072 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=) single nucleotide variant SHORT syndrome [RCV000940186] Chr5:68296268 [GRCh38]
Chr5:67592096 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=) single nucleotide variant SHORT syndrome [RCV000926880] Chr5:68295307 [GRCh38]
Chr5:67591135 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.888T>G (p.Thr296=) single nucleotide variant SHORT syndrome [RCV001452564] Chr5:68280978 [GRCh38]
Chr5:67576806 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.291T>C (p.Val97=) single nucleotide variant SHORT syndrome [RCV001394038] Chr5:68226966 [GRCh38]
Chr5:67522794 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.427+5C>A single nucleotide variant PIK3R1-related condition [RCV003962885]|SHORT syndrome [RCV000971748]|not provided [RCV001531423]|not specified [RCV001819117] Chr5:68273487 [GRCh38]
Chr5:67569315 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.635-4G>T single nucleotide variant not provided [RCV000972064] Chr5:68280524 [GRCh38]
Chr5:67576352 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.427+4A>C single nucleotide variant SHORT syndrome [RCV000795803] Chr5:68273486 [GRCh38]
Chr5:67569314 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.965del (p.Met322fs) deletion SHORT syndrome [RCV000803719] Chr5:68292307 [GRCh38]
Chr5:67588135 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser) single nucleotide variant SHORT syndrome [RCV000818495] Chr5:68226845 [GRCh38]
Chr5:67522673 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) single nucleotide variant SHORT syndrome [RCV000799323] Chr5:68279653 [GRCh38]
Chr5:67575481 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1017G>C (p.Ser339=) single nucleotide variant SHORT syndrome [RCV001456643]|not provided [RCV000998391] Chr5:68292359 [GRCh38]
Chr5:67588187 [GRCh37]
Chr5:5q13.1		 likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) single nucleotide variant SHORT syndrome [RCV001043333] Chr5:68280615 [GRCh38]
Chr5:67576443 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.866T>G (p.Val289Gly) single nucleotide variant not provided [RCV001091914] Chr5:68280956 [GRCh38]
Chr5:67576784 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) single nucleotide variant SHORT syndrome [RCV001065672]|not provided [RCV002462314] Chr5:68294572 [GRCh38]
Chr5:67590400 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1507C>A (p.Arg503=) single nucleotide variant SHORT syndrome [RCV001440461] Chr5:68294617 [GRCh38]
Chr5:67590445 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) single nucleotide variant SHORT syndrome [RCV000804116]|not provided [RCV001729707] Chr5:68280609 [GRCh38]
Chr5:67576437 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) deletion SHORT syndrome [RCV001068608] Chr5:68296275..68296285 [GRCh38]
Chr5:67592103..67592113 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) single nucleotide variant SHORT syndrome [RCV001223412] Chr5:68226875 [GRCh38]
Chr5:67522703 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) microsatellite SHORT syndrome [RCV001222112] Chr5:68297434..68297435 [GRCh38]
Chr5:67593262..67593263 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) single nucleotide variant SHORT syndrome [RCV001238524] Chr5:68297558 [GRCh38]
Chr5:67593386 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del) deletion SHORT syndrome [RCV001210361] Chr5:68292305..68292316 [GRCh38]
Chr5:67588133..67588144 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) single nucleotide variant SHORT syndrome [RCV001241821] Chr5:68279652 [GRCh38]
Chr5:67575480 [GRCh37]
Chr5:5q13.1		 uncertain significance
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2		 likely pathogenic
NM_181523.3(PIK3R1):c.769A>C (p.Asn257His) single nucleotide variant Immunodeficiency 36 [RCV001198740] Chr5:68280662 [GRCh38]
Chr5:67576490 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1569-62A>G single nucleotide variant not provided [RCV001550189] Chr5:68295086 [GRCh38]
Chr5:67590914 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.917-3877G>C single nucleotide variant not provided [RCV001565950] Chr5:68288382 [GRCh38]
Chr5:67584210 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1426-224C>A single nucleotide variant not provided [RCV001570387] Chr5:68294312 [GRCh38]
Chr5:67590140 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.917-3746CGAGC[4] microsatellite not provided [RCV001658589] Chr5:68288512..68288513 [GRCh38]
Chr5:67584340..67584341 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.428-165A>G single nucleotide variant not provided [RCV001688204] Chr5:68273774 [GRCh38]
Chr5:67569602 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1985+112G>A single nucleotide variant not provided [RCV001674232]|not specified [RCV003487651] Chr5:68296453 [GRCh38]
Chr5:67592281 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1985+124A>C single nucleotide variant not provided [RCV001649750] Chr5:68296465 [GRCh38]
Chr5:67592293 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1815-39G>A single nucleotide variant not provided [RCV001546711] Chr5:68296132 [GRCh38]
Chr5:67591960 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=) single nucleotide variant SHORT syndrome [RCV000979912] Chr5:68297472 [GRCh38]
Chr5:67593300 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1704A>T (p.Pro568=) single nucleotide variant SHORT syndrome [RCV001426608] Chr5:68295283 [GRCh38]
Chr5:67591111 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=) single nucleotide variant SHORT syndrome [RCV000899419] Chr5:68293354 [GRCh38]
Chr5:67589182 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=) single nucleotide variant SHORT syndrome [RCV000942766] Chr5:68226924 [GRCh38]
Chr5:67522752 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.334+4_334+9del deletion SHORT syndrome [RCV001235744] Chr5:68227013..68227018 [GRCh38]
Chr5:67522841..67522846 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) single nucleotide variant SHORT syndrome [RCV001244605] Chr5:68273454 [GRCh38]
Chr5:67569282 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) single nucleotide variant SHORT syndrome [RCV001050912] Chr5:68297594 [GRCh38]
Chr5:67593422 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) single nucleotide variant SHORT syndrome [RCV001216893]|not provided [RCV003132280] Chr5:68280979 [GRCh38]
Chr5:67576807 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) single nucleotide variant SHORT syndrome [RCV001243958] Chr5:68296217 [GRCh38]
Chr5:67592045 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.502+1G>C single nucleotide variant SHORT syndrome [RCV001192682] Chr5:68274014 [GRCh38]
Chr5:67569842 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.531C>T (p.Ile177=) single nucleotide variant SHORT syndrome [RCV003768878] Chr5:68279630 [GRCh38]
Chr5:67575458 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.634+256T>C single nucleotide variant not provided [RCV001574843] Chr5:68279989 [GRCh38]
Chr5:67575817 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.427+174A>G single nucleotide variant not provided [RCV001558545] Chr5:68273656 [GRCh38]
Chr5:67569484 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.503-93_503-92del deletion not provided [RCV001678046] Chr5:68279496..68279497 [GRCh38]
Chr5:67575324..67575325 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.634+81A>G single nucleotide variant not provided [RCV001687408]|not specified [RCV003401611] Chr5:68279814 [GRCh38]
Chr5:67575642 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1985+285dup duplication not provided [RCV001657456] Chr5:68296619..68296620 [GRCh38]
Chr5:67592447..67592448 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1986-224T>C single nucleotide variant not provided [RCV001654462] Chr5:68297188 [GRCh38]
Chr5:67593016 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.502+128T>C single nucleotide variant not provided [RCV001592538] Chr5:68274141 [GRCh38]
Chr5:67569969 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.334+83T>C single nucleotide variant not provided [RCV001677977] Chr5:68227092 [GRCh38]
Chr5:67522920 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1569-178AAAAT[3] microsatellite not provided [RCV001720858] Chr5:68294970..68294974 [GRCh38]
Chr5:67590798..67590802 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1568+52C>A single nucleotide variant not provided [RCV001637343] Chr5:68294730 [GRCh38]
Chr5:67590558 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.427+32T>C single nucleotide variant not provided [RCV001581800] Chr5:68273514 [GRCh38]
Chr5:67569342 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.503-92del deletion not provided [RCV001641485] Chr5:68279496 [GRCh38]
Chr5:67575324 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.503-149C>T single nucleotide variant not provided [RCV001677682] Chr5:68279453 [GRCh38]
Chr5:67575281 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.917-93C>T single nucleotide variant not provided [RCV001617251]|not specified [RCV003399430] Chr5:68292166 [GRCh38]
Chr5:67587994 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1569-129dup duplication not provided [RCV001693706] Chr5:68295004..68295005 [GRCh38]
Chr5:67590832..67590833 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.917-3329A>G single nucleotide variant not provided [RCV001676647] Chr5:68288930 [GRCh38]
Chr5:67584758 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1569-129del deletion not provided [RCV001658845] Chr5:68295005 [GRCh38]
Chr5:67590833 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1425+252G>A single nucleotide variant not provided [RCV001636348] Chr5:68294086 [GRCh38]
Chr5:67589914 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1300-2A>G single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027611]|SHORT syndrome [RCV001064934]|not provided [RCV001731193] Chr5:68293707 [GRCh38]
Chr5:67589535 [GRCh37]
Chr5:5q13.1		 likely pathogenic|not provided
NM_181523.3(PIK3R1):c.1422_1425+1del deletion Inherited Immunodeficiency Diseases [RCV001027612] Chr5:68293831..68293835 [GRCh38]
Chr5:67589659..67589663 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.428-21G>A single nucleotide variant Agammaglobulinemia 7, autosomal recessive [RCV001788759]|Immunodeficiency 36 [RCV001788761]|SHORT syndrome [RCV001788760]|not provided [RCV001681695]|not specified [RCV003394204] Chr5:68273918 [GRCh38]
Chr5:67569746 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.503-86A>G single nucleotide variant not provided [RCV001645094]|not specified [RCV003399444] Chr5:68279516 [GRCh38]
Chr5:67575344 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.427+81A>C single nucleotide variant not provided [RCV001692758]|not specified [RCV003487700] Chr5:68273563 [GRCh38]
Chr5:67569391 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.335-198C>G single nucleotide variant not provided [RCV001536740] Chr5:68273192 [GRCh38]
Chr5:67569020 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1425+36_1425+38dup duplication not provided [RCV001681443] Chr5:68293869..68293870 [GRCh38]
Chr5:67589697..67589698 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.917-3348G>A single nucleotide variant not provided [RCV001547156] Chr5:68288911 [GRCh38]
Chr5:67584739 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.502+297G>A single nucleotide variant not provided [RCV001648663] Chr5:68274310 [GRCh38]
Chr5:67570138 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) single nucleotide variant SHORT syndrome [RCV001049525] Chr5:68226926 [GRCh38]
Chr5:67522754 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1404_1425+4del deletion SHORT syndrome [RCV001203629] Chr5:68293810..68293835 [GRCh38]
Chr5:67589638..67589663 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) single nucleotide variant SHORT syndrome [RCV001036077] Chr5:68279613 [GRCh38]
Chr5:67575441 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile) single nucleotide variant SHORT syndrome [RCV001203218] Chr5:68226860 [GRCh38]
Chr5:67522688 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1300-10A>T single nucleotide variant SHORT syndrome [RCV001054036] Chr5:68293699 [GRCh38]
Chr5:67589527 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance
NM_181523.3(PIK3R1):c.202dup (p.Asp68fs) duplication not provided [RCV001091913] Chr5:68226871..68226872 [GRCh38]
Chr5:67522699..67522700 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) single nucleotide variant SHORT syndrome [RCV001058407] Chr5:68227007 [GRCh38]
Chr5:67522835 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) single nucleotide variant Agammaglobulinemia 7, autosomal recessive [RCV002245853]|SHORT syndrome [RCV001070323] Chr5:68280640 [GRCh38]
Chr5:67576468 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) single nucleotide variant SHORT syndrome [RCV001213348] Chr5:68279661 [GRCh38]
Chr5:67575489 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) single nucleotide variant SHORT syndrome [RCV001063402] Chr5:68273996 [GRCh38]
Chr5:67569824 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del) deletion SHORT syndrome [RCV001253474] Chr5:68295184..68295198 [GRCh38]
Chr5:67591012..67591026 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter) single nucleotide variant Immunodeficiency 36 [RCV001262332] Chr5:68280554 [GRCh38]
Chr5:67576382 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met) single nucleotide variant SHORT syndrome [RCV003106182]|not provided [RCV001810686] Chr5:68297413 [GRCh38]
Chr5:67593241 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.334+4A>G single nucleotide variant SHORT syndrome [RCV001298611] Chr5:68227013 [GRCh38]
Chr5:67522841 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1746-5_1748del deletion Vascular Malformations and Overgrowth [RCV001290356] Chr5:68295415..68295422 [GRCh38]
Chr5:67591243..67591250 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile) single nucleotide variant SHORT syndrome [RCV001298224]|not specified [RCV001844281] Chr5:68279605 [GRCh38]
Chr5:67575433 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu) single nucleotide variant SHORT syndrome [RCV001317686]|not provided [RCV003442844] Chr5:68226884 [GRCh38]
Chr5:67522712 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val) single nucleotide variant SHORT syndrome [RCV001298308] Chr5:68296284 [GRCh38]
Chr5:67592112 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val) single nucleotide variant SHORT syndrome [RCV001318421] Chr5:68297440 [GRCh38]
Chr5:67593268 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn) single nucleotide variant SHORT syndrome [RCV001361243] Chr5:68280693 [GRCh38]
Chr5:67576521 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.202G>C (p.Asp68His) single nucleotide variant SHORT syndrome [RCV001361547] Chr5:68226877 [GRCh38]
Chr5:67522705 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg) single nucleotide variant SHORT syndrome [RCV001327055] Chr5:68297432 [GRCh38]
Chr5:67593260 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.*1del (p.Ter725=) deletion SHORT syndrome [RCV001369190] Chr5:68297601 [GRCh38]
Chr5:67593429 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln) single nucleotide variant SHORT syndrome [RCV001298134] Chr5:68279671 [GRCh38]
Chr5:67575499 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) deletion Colorectal cancer [RCV001293839]|Immunodeficiency 36 [RCV001328801]|SHORT syndrome [RCV003770478] Chr5:68293748 [GRCh38]
Chr5:67589576 [GRCh37]
Chr5:5q13.1		 pathogenic|likely pathogenic
NM_181523.3(PIK3R1):c.739T>C (p.Phe247Leu) single nucleotide variant SHORT syndrome [RCV001359337] Chr5:68280632 [GRCh38]
Chr5:67576460 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln) single nucleotide variant SHORT syndrome [RCV001319912] Chr5:68226953 [GRCh38]
Chr5:67522781 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.541G>A (p.Val181Ile) single nucleotide variant SHORT syndrome [RCV001323837] Chr5:68279640 [GRCh38]
Chr5:67575468 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1745+5G>A single nucleotide variant SHORT syndrome [RCV001343787] Chr5:68295329 [GRCh38]
Chr5:67591157 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser) single nucleotide variant SHORT syndrome [RCV001326950] Chr5:68292301 [GRCh38]
Chr5:67588129 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1758A>G (p.Gln586=) single nucleotide variant SHORT syndrome [RCV001322377] Chr5:68295432 [GRCh38]
Chr5:67591260 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1273C>T (p.Leu425Phe) single nucleotide variant SHORT syndrome [RCV001363538] Chr5:68293457 [GRCh38]
Chr5:67589285 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) single nucleotide variant SHORT syndrome [RCV001364484] Chr5:68295249 [GRCh38]
Chr5:67591077 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=) single nucleotide variant SHORT syndrome [RCV001299456] Chr5:68293444 [GRCh38]
Chr5:67589272 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val) single nucleotide variant SHORT syndrome [RCV001351892] Chr5:68273398 [GRCh38]
Chr5:67569226 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.445C>T (p.Leu149=) single nucleotide variant SHORT syndrome [RCV001394971] Chr5:68273956 [GRCh38]
Chr5:67569784 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe) single nucleotide variant SHORT syndrome [RCV001369350] Chr5:68280707 [GRCh38]
Chr5:67576535 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln) single nucleotide variant SHORT syndrome [RCV001295611] Chr5:68293410 [GRCh38]
Chr5:67589238 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.635-4G>A single nucleotide variant SHORT syndrome [RCV001450463] Chr5:68280524 [GRCh38]
Chr5:67576352 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2040C>G (p.Gly680=) single nucleotide variant SHORT syndrome [RCV001502929] Chr5:68297466 [GRCh38]
Chr5:67593294 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.168A>G (p.Leu56=) single nucleotide variant SHORT syndrome [RCV001478666] Chr5:68226843 [GRCh38]
Chr5:67522671 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.334+12T>C single nucleotide variant SHORT syndrome [RCV001510090] Chr5:68227021 [GRCh38]
Chr5:67522849 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1194C>T (p.Phe398=) single nucleotide variant SHORT syndrome [RCV001454322] Chr5:68293378 [GRCh38]
Chr5:67589206 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1118+11G>A single nucleotide variant SHORT syndrome [RCV001520718]|not provided [RCV001564991] Chr5:68293210 [GRCh38]
Chr5:67589038 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.1785C>T (p.Asn595=) single nucleotide variant SHORT syndrome [RCV001429005] Chr5:68295459 [GRCh38]
Chr5:67591287 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu) single nucleotide variant SHORT syndrome [RCV001467141]|SHORT syndrome [RCV001824968]|not provided [RCV003132500] Chr5:68226980 [GRCh38]
Chr5:67522808 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance|not provided
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=) single nucleotide variant SHORT syndrome [RCV001470166]|not provided [RCV001531424]|not specified [RCV001820164] Chr5:68296276 [GRCh38]
Chr5:67592104 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.450C>T (p.Tyr150=) single nucleotide variant SHORT syndrome [RCV001504757] Chr5:68273961 [GRCh38]
Chr5:67569789 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) single nucleotide variant PIK3R1-related condition [RCV003399205]|SHORT syndrome [RCV001384927] Chr5:68280991 [GRCh38]
Chr5:67576819 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.108C>A (p.Ser36=) single nucleotide variant SHORT syndrome [RCV001407000] Chr5:68226783 [GRCh38]
Chr5:67522611 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1080G>A (p.Ala360=) single nucleotide variant SHORT syndrome [RCV001404411] Chr5:68293161 [GRCh38]
Chr5:67588989 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.917-3C>T single nucleotide variant SHORT syndrome [RCV001398034] Chr5:68292256 [GRCh38]
Chr5:67588084 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.428-6T>C single nucleotide variant SHORT syndrome [RCV001430652]|not provided [RCV003222321] Chr5:68273933 [GRCh38]
Chr5:67569761 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance
NM_181523.3(PIK3R1):c.837-13C>T single nucleotide variant SHORT syndrome [RCV001399715] Chr5:68280914 [GRCh38]
Chr5:67576742 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1482T>C (p.Phe494=) single nucleotide variant SHORT syndrome [RCV001430792] Chr5:68294592 [GRCh38]
Chr5:67590420 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1985+7A>G single nucleotide variant SHORT syndrome [RCV001434671] Chr5:68296348 [GRCh38]
Chr5:67592176 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.387G>A (p.Pro129=) single nucleotide variant SHORT syndrome [RCV001429836] Chr5:68273442 [GRCh38]
Chr5:67569270 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr) single nucleotide variant SHORT syndrome [RCV001882544]|not provided [RCV001507644] Chr5:68273401 [GRCh38]
Chr5:67569229 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.916+217G>A single nucleotide variant not provided [RCV001668986] Chr5:68281223 [GRCh38]
Chr5:67577051 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.513C>T (p.Ser171=) single nucleotide variant SHORT syndrome [RCV001465149] Chr5:68279612 [GRCh38]
Chr5:67575440 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.427+169A>G single nucleotide variant not provided [RCV001613766] Chr5:68273651 [GRCh38]
Chr5:67569479 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=) single nucleotide variant SHORT syndrome [RCV001512234] Chr5:68226981 [GRCh38]
Chr5:67522809 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.503-92dup duplication not provided [RCV001611855] Chr5:68279495..68279496 [GRCh38]
Chr5:67575323..67575324 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1569-130_1569-129dup duplication not provided [RCV001674288] Chr5:68295004..68295005 [GRCh38]
Chr5:67590832..67590833 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1815-10G>A single nucleotide variant SHORT syndrome [RCV001469922] Chr5:68296161 [GRCh38]
Chr5:67591989 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter) single nucleotide variant SHORT syndrome [RCV003771547]|not provided [RCV001507645] Chr5:68297596 [GRCh38]
Chr5:67593424 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.369C>A (p.Ala123=) single nucleotide variant SHORT syndrome [RCV001469115] Chr5:68273424 [GRCh38]
Chr5:67569252 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.960C>T (p.Asn320=) single nucleotide variant SHORT syndrome [RCV001443517] Chr5:68292302 [GRCh38]
Chr5:67588130 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.334+18G>A single nucleotide variant SHORT syndrome [RCV001503754] Chr5:68227027 [GRCh38]
Chr5:67522855 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1332T>C (p.Ala444=) single nucleotide variant SHORT syndrome [RCV001393901] Chr5:68293741 [GRCh38]
Chr5:67589569 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1746-2A>G single nucleotide variant not provided [RCV001727325] Chr5:68295418 [GRCh38]
Chr5:67591246 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1426-20T>G single nucleotide variant SHORT syndrome [RCV002074053]|not provided [RCV003237667] Chr5:68294516 [GRCh38]
Chr5:67590344 [GRCh37]
Chr5:5q13.1		 benign|uncertain significance
NM_181523.3(PIK3R1):c.1346_1354dup (p.Leu449_Glu451dup) duplication not provided [RCV001772703] Chr5:68293751..68293752 [GRCh38]
Chr5:67589579..67589580 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.62A>T (p.Asp21Val) single nucleotide variant not provided [RCV001769296] Chr5:68226737 [GRCh38]
Chr5:67522565 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1746-1G>C single nucleotide variant not provided [RCV001787253] Chr5:68295419 [GRCh38]
Chr5:67591247 [GRCh37]
Chr5:5q13.1		 not provided
NM_181523.3(PIK3R1):c.-386-183C>T single nucleotide variant not provided [RCV001733328] Chr5:68226107 [GRCh38]
Chr5:67521935 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1135A>G (p.Lys379Glu) single nucleotide variant not provided [RCV001814727] Chr5:68293319 [GRCh38]
Chr5:67589147 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1299+2T>C single nucleotide variant not provided [RCV001818106] Chr5:68293485 [GRCh38]
Chr5:67589313 [GRCh37]
Chr5:5q13.1		 not provided
NM_181523.3(PIK3R1):c.406G>A (p.Val136Met) single nucleotide variant SHORT syndrome [RCV003772321]|not specified [RCV001820693] Chr5:68273461 [GRCh38]
Chr5:67569289 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro) single nucleotide variant SHORT syndrome [RCV001874136] Chr5:68226794 [GRCh38]
Chr5:67522622 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.869T>C (p.Ile290Thr) single nucleotide variant SHORT syndrome [RCV002025445] Chr5:68280959 [GRCh38]
Chr5:67576787 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe) single nucleotide variant SHORT syndrome [RCV001864657] Chr5:68279665 [GRCh38]
Chr5:67575493 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe) single nucleotide variant SHORT syndrome [RCV001987228] Chr5:68273398 [GRCh38]
Chr5:67569226 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile) single nucleotide variant SHORT syndrome [RCV001928559] Chr5:68226895 [GRCh38]
Chr5:67522723 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His) single nucleotide variant SHORT syndrome [RCV001874296] Chr5:68297482 [GRCh38]
Chr5:67593310 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1993G>A (p.Gly665Ser) single nucleotide variant SHORT syndrome [RCV002021852] Chr5:68297419 [GRCh38]
Chr5:67593247 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn) single nucleotide variant SHORT syndrome [RCV001966494] Chr5:68297581 [GRCh38]
Chr5:67593409 [GRCh37]
Chr5:5q13.1		 uncertain significance
GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646) copy number loss not specified [RCV002053499] Chr5:64049692..70306646 [GRCh37]
Chr5:5q12.3-13.2		 pathogenic
NM_181523.3(PIK3R1):c.917-4792G>A single nucleotide variant SHORT syndrome [RCV001839147] Chr5:68287467 [GRCh38]
Chr5:67583295 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1541G>A (p.Arg514His) single nucleotide variant SHORT syndrome [RCV002002892] Chr5:68294651 [GRCh38]
Chr5:67590479 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.586C>T (p.Pro196Ser) single nucleotide variant SHORT syndrome [RCV001928755] Chr5:68279685 [GRCh38]
Chr5:67575513 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys) single nucleotide variant SHORT syndrome [RCV002004948] Chr5:68280609 [GRCh38]
Chr5:67576437 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=) single nucleotide variant SHORT syndrome [RCV001863418] Chr5:68293714 [GRCh38]
Chr5:67589542 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala) single nucleotide variant SHORT syndrome [RCV001891579]|not provided [RCV002293538] Chr5:68226779 [GRCh38]
Chr5:67522607 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1569-3C>T single nucleotide variant SHORT syndrome [RCV001912273] Chr5:68295145 [GRCh38]
Chr5:67590973 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1569-189A>G single nucleotide variant not provided [RCV002052403] Chr5:68294959 [GRCh38]
Chr5:67590787 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1815-6_1815-3del microsatellite SHORT syndrome [RCV002039851] Chr5:68296158..68296161 [GRCh38]
Chr5:67591986..67591989 [GRCh37]
Chr5:5q13.1		 likely benign|uncertain significance
NM_181523.3(PIK3R1):c.1815-99C>T single nucleotide variant not provided [RCV002052352] Chr5:68296072 [GRCh38]
Chr5:67591900 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr) single nucleotide variant SHORT syndrome [RCV001968228] Chr5:68297452 [GRCh38]
Chr5:67593280 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.580C>A (p.Pro194Thr) single nucleotide variant SHORT syndrome [RCV001967267] Chr5:68279679 [GRCh38]
Chr5:67575507 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile) single nucleotide variant SHORT syndrome [RCV001986414] Chr5:68279703 [GRCh38]
Chr5:67575531 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro) single nucleotide variant SHORT syndrome [RCV001888020] Chr5:68279610 [GRCh38]
Chr5:67575438 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) single nucleotide variant SHORT syndrome [RCV001999758] Chr5:68273961 [GRCh38]
Chr5:67569789 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr) single nucleotide variant SHORT syndrome [RCV001900091] Chr5:68280935 [GRCh38]
Chr5:67576763 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.502+6T>C single nucleotide variant SHORT syndrome [RCV001936173] Chr5:68274019 [GRCh38]
Chr5:67569847 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs) duplication SHORT syndrome [RCV001898266] Chr5:68293747..68293748 [GRCh38]
Chr5:67589575..67589576 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser) single nucleotide variant SHORT syndrome [RCV001915780] Chr5:68292316 [GRCh38]
Chr5:67588144 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1289A>C (p.Lys430Thr) single nucleotide variant SHORT syndrome [RCV001975939] Chr5:68293473 [GRCh38]
Chr5:67589301 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1300-5_1320del deletion SHORT syndrome [RCV002031764] Chr5:68293703..68293728 [GRCh38]
Chr5:67589531..67589556 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.736C>A (p.His246Asn) single nucleotide variant SHORT syndrome [RCV002014780]|not provided [RCV002509726] Chr5:68280629 [GRCh38]
Chr5:67576457 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.616A>G (p.Met206Val) single nucleotide variant SHORT syndrome [RCV001921500] Chr5:68279715 [GRCh38]
Chr5:67575543 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser) single nucleotide variant SHORT syndrome [RCV002011146] Chr5:68280944 [GRCh38]
Chr5:67576772 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.917-14_917-9del microsatellite SHORT syndrome [RCV001898884] Chr5:68292238..68292243 [GRCh38]
Chr5:67588066..67588071 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.610A>G (p.Ser204Gly) single nucleotide variant SHORT syndrome [RCV001884980] Chr5:68279709 [GRCh38]
Chr5:67575537 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1118+5G>A single nucleotide variant SHORT syndrome [RCV002033260] Chr5:68293204 [GRCh38]
Chr5:67589032 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln) single nucleotide variant SHORT syndrome [RCV001899895] Chr5:68293341 [GRCh38]
Chr5:67589169 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.916+18T>G single nucleotide variant SHORT syndrome [RCV001932079] Chr5:68281024 [GRCh38]
Chr5:67576852 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) single nucleotide variant SHORT syndrome [RCV001877177] Chr5:68273995 [GRCh38]
Chr5:67569823 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.701A>G (p.His234Arg) single nucleotide variant SHORT syndrome [RCV001924950] Chr5:68280594 [GRCh38]
Chr5:67576422 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu) single nucleotide variant Inborn genetic diseases [RCV002562875]|SHORT syndrome [RCV001981572] Chr5:68280718 [GRCh38]
Chr5:67576546 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu) single nucleotide variant PIK3R1-related condition [RCV003434351]|SHORT syndrome [RCV001938062] Chr5:68273461 [GRCh38]
Chr5:67569289 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp) single nucleotide variant SHORT syndrome [RCV002047896] Chr5:68293816 [GRCh38]
Chr5:67589644 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1273C>A (p.Leu425Ile) single nucleotide variant SHORT syndrome [RCV001973134] Chr5:68293457 [GRCh38]
Chr5:67589285 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe) single nucleotide variant SHORT syndrome [RCV002033942] Chr5:68273458 [GRCh38]
Chr5:67569286 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1056C>T (p.Asp352=) single nucleotide variant SHORT syndrome [RCV002108435] Chr5:68293137 [GRCh38]
Chr5:67588965 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1568+13C>G single nucleotide variant SHORT syndrome [RCV002166303] Chr5:68294691 [GRCh38]
Chr5:67590519 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.609C>T (p.Tyr203=) single nucleotide variant SHORT syndrome [RCV002145429] Chr5:68279708 [GRCh38]
Chr5:67575536 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2139A>G (p.Thr713=) single nucleotide variant SHORT syndrome [RCV002112398] Chr5:68297565 [GRCh38]
Chr5:67593393 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1029G>A (p.Val343=) single nucleotide variant SHORT syndrome [RCV002147933] Chr5:68293110 [GRCh38]
Chr5:67588938 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.978G>C (p.Met326Ile) single nucleotide variant SHORT syndrome [RCV002106451] Chr5:68292320 [GRCh38]
Chr5:67588148 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.837-11C>T single nucleotide variant SHORT syndrome [RCV002147773] Chr5:68280916 [GRCh38]
Chr5:67576744 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.768A>G (p.Lys256=) single nucleotide variant SHORT syndrome [RCV002075973] Chr5:68280661 [GRCh38]
Chr5:67576489 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.635-11T>A single nucleotide variant SHORT syndrome [RCV002110549] Chr5:68280517 [GRCh38]
Chr5:67576345 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.334+14_334+15delinsCA indel SHORT syndrome [RCV002186475] Chr5:68227023..68227024 [GRCh38]
Chr5:67522851..67522852 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1425+12A>G single nucleotide variant SHORT syndrome [RCV002207635] Chr5:68293846 [GRCh38]
Chr5:67589674 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1300-15T>A single nucleotide variant SHORT syndrome [RCV002209433] Chr5:68293694 [GRCh38]
Chr5:67589522 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1653G>A (p.Lys551=) single nucleotide variant SHORT syndrome [RCV002195215] Chr5:68295232 [GRCh38]
Chr5:67591060 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1605C>A (p.Ile535=) single nucleotide variant SHORT syndrome [RCV002093242] Chr5:68295184 [GRCh38]
Chr5:67591012 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.88T>C (p.Leu30=) single nucleotide variant SHORT syndrome [RCV002173939] Chr5:68226763 [GRCh38]
Chr5:67522591 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1020-19T>C single nucleotide variant SHORT syndrome [RCV002144910]|not provided [RCV003120824] Chr5:68293082 [GRCh38]
Chr5:67588910 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.335-17G>T single nucleotide variant SHORT syndrome [RCV002095265] Chr5:68273373 [GRCh38]
Chr5:67569201 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1568+7del deletion SHORT syndrome [RCV002166302] Chr5:68294685 [GRCh38]
Chr5:67590513 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.634+11T>G single nucleotide variant SHORT syndrome [RCV002092412] Chr5:68279744 [GRCh38]
Chr5:67575572 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1986-19T>C single nucleotide variant SHORT syndrome [RCV002172038] Chr5:68297393 [GRCh38]
Chr5:67593221 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1569-18C>T single nucleotide variant SHORT syndrome [RCV002191149] Chr5:68295130 [GRCh38]
Chr5:67590958 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.405C>T (p.Leu135=) single nucleotide variant SHORT syndrome [RCV002090914] Chr5:68273460 [GRCh38]
Chr5:67569288 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1683A>G (p.Lys561=) single nucleotide variant SHORT syndrome [RCV002078960] Chr5:68295262 [GRCh38]
Chr5:67591090 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1020-355T>G single nucleotide variant not provided [RCV002223738] Chr5:68292746 [GRCh38]
Chr5:67588574 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.836+8A>G single nucleotide variant SHORT syndrome [RCV002213084] Chr5:68280737 [GRCh38]
Chr5:67576565 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.351T>C (p.Asp117=) single nucleotide variant SHORT syndrome [RCV002131114] Chr5:68273406 [GRCh38]
Chr5:67569234 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1986-17T>C single nucleotide variant SHORT syndrome [RCV002196915] Chr5:68297395 [GRCh38]
Chr5:67593223 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.534T>C (p.Asp178=) single nucleotide variant SHORT syndrome [RCV002145629] Chr5:68279633 [GRCh38]
Chr5:67575461 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.330A>G (p.Gln110=) single nucleotide variant SHORT syndrome [RCV002172051] Chr5:68227005 [GRCh38]
Chr5:67522833 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.540C>T (p.His180=) single nucleotide variant SHORT syndrome [RCV002133565] Chr5:68279639 [GRCh38]
Chr5:67575467 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2100C>T (p.His700=) single nucleotide variant SHORT syndrome [RCV002114955] Chr5:68297526 [GRCh38]
Chr5:67593354 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.759C>G (p.Thr253=) single nucleotide variant SHORT syndrome [RCV002166851] Chr5:68280652 [GRCh38]
Chr5:67576480 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.9T>C (p.Ala3=) single nucleotide variant SHORT syndrome [RCV002119784] Chr5:68226684 [GRCh38]
Chr5:67522512 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=) single nucleotide variant SHORT syndrome [RCV002176374] Chr5:68295212 [GRCh38]
Chr5:67591040 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1568+18T>G single nucleotide variant SHORT syndrome [RCV002161331] Chr5:68294696 [GRCh38]
Chr5:67590524 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=) single nucleotide variant SHORT syndrome [RCV002119179] Chr5:68294622 [GRCh38]
Chr5:67590450 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.916+1G>A single nucleotide variant SHORT syndrome [RCV002250237] Chr5:68281007 [GRCh38]
Chr5:67576835 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.634+11T>C single nucleotide variant SHORT syndrome [RCV002163505] Chr5:68279744 [GRCh38]
Chr5:67575572 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2136C>A (p.Val712=) single nucleotide variant SHORT syndrome [RCV002220183] Chr5:68297562 [GRCh38]
Chr5:67593390 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.717G>A (p.Thr239=) single nucleotide variant SHORT syndrome [RCV002155597] Chr5:68280610 [GRCh38]
Chr5:67576438 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1728G>T (p.Thr576=) single nucleotide variant SHORT syndrome [RCV002160835] Chr5:68295307 [GRCh38]
Chr5:67591135 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1566A>G (p.Gln522=) single nucleotide variant SHORT syndrome [RCV002155997] Chr5:68294676 [GRCh38]
Chr5:67590504 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1569-17G>A single nucleotide variant SHORT syndrome [RCV002097922] Chr5:68295131 [GRCh38]
Chr5:67590959 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1569-14T>C single nucleotide variant SHORT syndrome [RCV002201777] Chr5:68295134 [GRCh38]
Chr5:67590962 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1568+10_1568+18del deletion SHORT syndrome [RCV002142915] Chr5:68294684..68294692 [GRCh38]
Chr5:67590512..67590520 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.603C>T (p.Ala201=) single nucleotide variant SHORT syndrome [RCV002136169] Chr5:68279702 [GRCh38]
Chr5:67575530 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1745+14A>G single nucleotide variant SHORT syndrome [RCV002180748] Chr5:68295338 [GRCh38]
Chr5:67591166 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1986-31_1986-19del deletion SHORT syndrome [RCV002218685] Chr5:68297380..68297392 [GRCh38]
Chr5:67593208..67593220 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp) indel CLOVES syndrome [RCV002221174] Chr5:68295311..68295317 [GRCh38]
Chr5:67591139..67591145 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1723_1731del (p.Lys575_Arg577del) deletion See cases [RCV002221175] Chr5:68295298..68295306 [GRCh38]
Chr5:67591126..67591134 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.785G>C (p.Arg262Thr) single nucleotide variant SHORT syndrome [RCV002204535] Chr5:68280678 [GRCh38]
Chr5:67576506 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=) single nucleotide variant SHORT syndrome [RCV002178812] Chr5:68279666 [GRCh38]
Chr5:67575494 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.753T>C (p.Ser251=) single nucleotide variant SHORT syndrome [RCV003118555] Chr5:68280646 [GRCh38]
Chr5:67576474 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.502+1G>T single nucleotide variant SHORT syndrome [RCV002251137] Chr5:68274014 [GRCh38]
Chr5:67569842 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1472T>G (p.Ile491Arg) single nucleotide variant not provided [RCV002263380] Chr5:68294582 [GRCh38]
Chr5:67590410 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1073G>A (p.Arg358Gln) single nucleotide variant not specified [RCV003236346] Chr5:68293154 [GRCh38]
Chr5:67588982 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.473T>C (p.Leu158Pro) single nucleotide variant Inborn genetic diseases [RCV003256022] Chr5:68273984 [GRCh38]
Chr5:67569812 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly) single nucleotide variant SHORT syndrome [RCV002297798] Chr5:68295200 [GRCh38]
Chr5:67591028 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val) single nucleotide variant SHORT syndrome [RCV002296767] Chr5:68293442 [GRCh38]
Chr5:67589270 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile) single nucleotide variant SHORT syndrome [RCV002304285] Chr5:68273396 [GRCh38]
Chr5:67569224 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys) single nucleotide variant SHORT syndrome [RCV002304876] Chr5:68226826 [GRCh38]
Chr5:67522654 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1019+5G>A single nucleotide variant not provided [RCV002512270] Chr5:68292366 [GRCh38]
Chr5:67588194 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.264G>A (p.Lys88=) single nucleotide variant SHORT syndrome [RCV002842213] Chr5:68226939 [GRCh38]
Chr5:67522767 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1815-17_1815-16del deletion SHORT syndrome [RCV002837557] Chr5:68296153..68296154 [GRCh38]
Chr5:67591981..67591982 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.925C>G (p.Pro309Ala) single nucleotide variant Inborn genetic diseases [RCV002793657] Chr5:68292267 [GRCh38]
Chr5:67588095 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.213A>C (p.Gly71=) single nucleotide variant SHORT syndrome [RCV003032920] Chr5:68226888 [GRCh38]
Chr5:67522716 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.549T>C (p.Ala183=) single nucleotide variant SHORT syndrome [RCV003074600] Chr5:68279648 [GRCh38]
Chr5:67575476 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly) single nucleotide variant SHORT syndrome [RCV002838560] Chr5:68293728 [GRCh38]
Chr5:67589556 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys) single nucleotide variant SHORT syndrome [RCV002819086] Chr5:68273966 [GRCh38]
Chr5:67569794 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1019+19C>T single nucleotide variant SHORT syndrome [RCV003015088] Chr5:68292380 [GRCh38]
Chr5:67588208 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.916+2T>C single nucleotide variant SHORT syndrome [RCV002863776] Chr5:68281008 [GRCh38]
Chr5:67576836 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.1745+18A>G single nucleotide variant SHORT syndrome [RCV002690198] Chr5:68295342 [GRCh38]
Chr5:67591170 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn) single nucleotide variant SHORT syndrome [RCV003014673] Chr5:68273431 [GRCh38]
Chr5:67569259 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser) single nucleotide variant SHORT syndrome [RCV003033109] Chr5:68293142 [GRCh38]
Chr5:67588970 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1986-11C>T single nucleotide variant SHORT syndrome [RCV002686144] Chr5:68297401 [GRCh38]
Chr5:67593229 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.468C>T (p.Ser156=) single nucleotide variant SHORT syndrome [RCV002785690] Chr5:68273979 [GRCh38]
Chr5:67569807 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1425+19T>C single nucleotide variant SHORT syndrome [RCV003021029] Chr5:68293853 [GRCh38]
Chr5:67589681 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr) single nucleotide variant SHORT syndrome [RCV002570846] Chr5:68295324 [GRCh38]
Chr5:67591152 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys) single nucleotide variant SHORT syndrome [RCV003000085] Chr5:68280988 [GRCh38]
Chr5:67576816 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=) single nucleotide variant SHORT syndrome [RCV002736086] Chr5:68295274 [GRCh38]
Chr5:67591102 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.427+6C>G single nucleotide variant SHORT syndrome [RCV003100309] Chr5:68273488 [GRCh38]
Chr5:67569316 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del) microsatellite SHORT syndrome [RCV002591377] Chr5:68227001..68227003 [GRCh38]
Chr5:67522829..67522831 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu) single nucleotide variant SHORT syndrome [RCV002825053] Chr5:68273441 [GRCh38]
Chr5:67569269 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1569-6C>T single nucleotide variant SHORT syndrome [RCV002620491] Chr5:68295142 [GRCh38]
Chr5:67590970 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.162C>T (p.Gly54=) single nucleotide variant SHORT syndrome [RCV002824551] Chr5:68226837 [GRCh38]
Chr5:67522665 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.33G>A (p.Leu11=) single nucleotide variant SHORT syndrome [RCV002912972] Chr5:68226708 [GRCh38]
Chr5:67522536 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His) single nucleotide variant SHORT syndrome [RCV002912992] Chr5:68296318 [GRCh38]
Chr5:67592146 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val) single nucleotide variant SHORT syndrome [RCV002797103] Chr5:68226832 [GRCh38]
Chr5:67522660 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala) single nucleotide variant SHORT syndrome [RCV003002599] Chr5:68281003 [GRCh38]
Chr5:67576831 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala) single nucleotide variant SHORT syndrome [RCV003002056] Chr5:68279604 [GRCh38]
Chr5:67575432 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=) single nucleotide variant SHORT syndrome [RCV003023618] Chr5:68294634 [GRCh38]
Chr5:67590462 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1299+9_1299+19del deletion SHORT syndrome [RCV002872419] Chr5:68293490..68293500 [GRCh38]
Chr5:67589318..67589328 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=) single nucleotide variant SHORT syndrome [RCV002890786] Chr5:68294574 [GRCh38]
Chr5:67590402 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp) indel SHORT syndrome [RCV003041503] Chr5:68226779..68226780 [GRCh38]
Chr5:67522607..67522608 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg) single nucleotide variant Inborn genetic diseases [RCV002891428]|SHORT syndrome [RCV003777881] Chr5:68280639 [GRCh38]
Chr5:67576467 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro) single nucleotide variant SHORT syndrome [RCV003008067] Chr5:68294651 [GRCh38]
Chr5:67590479 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala) single nucleotide variant SHORT syndrome [RCV003057065] Chr5:68293386 [GRCh38]
Chr5:67589214 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1299+4A>G single nucleotide variant SHORT syndrome [RCV002985624] Chr5:68293487 [GRCh38]
Chr5:67589315 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.30G>A (p.Ala10=) single nucleotide variant PIK3R1-related condition [RCV003898727]|SHORT syndrome [RCV003058614] Chr5:68226705 [GRCh38]
Chr5:67522533 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2166G>A (p.Gln722=) single nucleotide variant SHORT syndrome [RCV002932347] Chr5:68297592 [GRCh38]
Chr5:67593420 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly) single nucleotide variant SHORT syndrome [RCV002596531] Chr5:68280713 [GRCh38]
Chr5:67576541 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1814+8G>T single nucleotide variant SHORT syndrome [RCV003058611] Chr5:68295496 [GRCh38]
Chr5:67591324 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg) single nucleotide variant SHORT syndrome [RCV002644342] Chr5:68293473 [GRCh38]
Chr5:67589301 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.334+7A>G single nucleotide variant SHORT syndrome [RCV002790575] Chr5:68227016 [GRCh38]
Chr5:67522844 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.634+82A>G single nucleotide variant SHORT syndrome [RCV002640729] Chr5:68279815 [GRCh38]
Chr5:67575643 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs) deletion SHORT syndrome [RCV003031557] Chr5:68293756..68293766 [GRCh38]
Chr5:67589584..67589594 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val) single nucleotide variant SHORT syndrome [RCV002721239] Chr5:68292295 [GRCh38]
Chr5:67588123 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser) single nucleotide variant SHORT syndrome [RCV003065428] Chr5:68280573 [GRCh38]
Chr5:67576401 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr) single nucleotide variant SHORT syndrome [RCV003048426] Chr5:68279631 [GRCh38]
Chr5:67575459 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=) single nucleotide variant SHORT syndrome [RCV002602754] Chr5:68297418 [GRCh38]
Chr5:67593246 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu) single nucleotide variant SHORT syndrome [RCV002938101] Chr5:68280635 [GRCh38]
Chr5:67576463 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1422C>T (p.Ser474=) single nucleotide variant SHORT syndrome [RCV002581331] Chr5:68293831 [GRCh38]
Chr5:67589659 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.267C>T (p.Pro89=) single nucleotide variant SHORT syndrome [RCV002933870] Chr5:68226942 [GRCh38]
Chr5:67522770 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1985+3A>G single nucleotide variant SHORT syndrome [RCV002792063] Chr5:68296344 [GRCh38]
Chr5:67592172 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr) single nucleotide variant SHORT syndrome [RCV003027727] Chr5:68273453 [GRCh38]
Chr5:67569281 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=) single nucleotide variant PIK3R1-related condition [RCV003906516]|SHORT syndrome [RCV002579059] Chr5:68293131 [GRCh38]
Chr5:67588959 [GRCh37]
Chr5:5q13.1		 benign|likely benign
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu) single nucleotide variant SHORT syndrome [RCV003027333] Chr5:68297418 [GRCh38]
Chr5:67593246 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe) single nucleotide variant SHORT syndrome [RCV002649563] Chr5:68295287 [GRCh38]
Chr5:67591115 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.198G>A (p.Arg66=) single nucleotide variant SHORT syndrome [RCV003087597] Chr5:68226873 [GRCh38]
Chr5:67522701 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys) single nucleotide variant SHORT syndrome [RCV003010395]|not provided [RCV003443104] Chr5:68295177 [GRCh38]
Chr5:67591005 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val) single nucleotide variant SHORT syndrome [RCV002834724] Chr5:68279728 [GRCh38]
Chr5:67575556 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn) single nucleotide variant SHORT syndrome [RCV003065460] Chr5:68279631 [GRCh38]
Chr5:67575459 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1746-9G>C single nucleotide variant SHORT syndrome [RCV003027484] Chr5:68295411 [GRCh38]
Chr5:67591239 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile) single nucleotide variant SHORT syndrome [RCV003067801] Chr5:68279667 [GRCh38]
Chr5:67575495 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1434A>G (p.Gln478=) single nucleotide variant SHORT syndrome [RCV002583802] Chr5:68294544 [GRCh38]
Chr5:67590372 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1985+19C>T single nucleotide variant SHORT syndrome [RCV003093372] Chr5:68296360 [GRCh38]
Chr5:67592188 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln) single nucleotide variant SHORT syndrome [RCV002942435] Chr5:68296302 [GRCh38]
Chr5:67592130 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.837-13C>A single nucleotide variant SHORT syndrome [RCV002634000] Chr5:68280914 [GRCh38]
Chr5:67576742 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser) single nucleotide variant SHORT syndrome [RCV002653540] Chr5:68292298 [GRCh38]
Chr5:67588126 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1985+11C>T single nucleotide variant SHORT syndrome [RCV002721879] Chr5:68296352 [GRCh38]
Chr5:67592180 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys) single nucleotide variant SHORT syndrome [RCV002605970] Chr5:68296304 [GRCh38]
Chr5:67592132 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.916+9T>G single nucleotide variant SHORT syndrome [RCV003093082] Chr5:68281015 [GRCh38]
Chr5:67576843 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile) single nucleotide variant SHORT syndrome [RCV002608285] Chr5:68280530 [GRCh38]
Chr5:67576358 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.334+18G>C single nucleotide variant SHORT syndrome [RCV002587632] Chr5:68227027 [GRCh38]
Chr5:67522855 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter) single nucleotide variant SHORT syndrome [RCV003051784] Chr5:68293153 [GRCh38]
Chr5:67588981 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.510C>G (p.Pro170=) single nucleotide variant SHORT syndrome [RCV003072933] Chr5:68279609 [GRCh38]
Chr5:67575437 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.397A>G (p.Ile133Val) single nucleotide variant not provided [RCV003134918] Chr5:68273452 [GRCh38]
Chr5:67569280 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1077T>C (p.Asp359=) single nucleotide variant not provided [RCV003134919] Chr5:68293158 [GRCh38]
Chr5:67588986 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.748C>G (p.Leu250Val) single nucleotide variant not provided [RCV003134917] Chr5:68280641 [GRCh38]
Chr5:67576469 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2050C>T (p.Pro684Ser) single nucleotide variant not provided [RCV003323082] Chr5:68297476 [GRCh38]
Chr5:67593304 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1538A>G (p.Lys513Arg) single nucleotide variant Inborn genetic diseases [RCV003309128] Chr5:68294648 [GRCh38]
Chr5:67590476 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1236T>G (p.Ser412=) single nucleotide variant SHORT syndrome [RCV003328107] Chr5:68293420 [GRCh38]
Chr5:67589248 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.334+12973A>C single nucleotide variant not specified [RCV003397122] Chr5:68239982 [GRCh38]
Chr5:67535810 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.1264G>A (p.Val422Met) single nucleotide variant Immunodeficiency 36 [RCV003333578] Chr5:68293448 [GRCh38]
Chr5:67589276 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.684G>A (p.Arg228=) single nucleotide variant SHORT syndrome [RCV003782016] Chr5:68280577 [GRCh38]
Chr5:67576405 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.414C>A (p.Ala138=) single nucleotide variant SHORT syndrome [RCV003791873] Chr5:68273469 [GRCh38]
Chr5:67569297 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1746-2A>C single nucleotide variant PIK3R1-related condition [RCV003402837] Chr5:68295418 [GRCh38]
Chr5:67591246 [GRCh37]
Chr5:5q13.1		 likely pathogenic
NM_181523.3(PIK3R1):c.2020A>C (p.Lys674Gln) single nucleotide variant PIK3R1-related condition [RCV003404631] Chr5:68297446 [GRCh38]
Chr5:67593274 [GRCh37]
Chr5:5q13.1		 uncertain significance
Single allele deletion not provided [RCV003448709] Chr5:62757224..67825254 [GRCh37]
Chr5:5q12.1-13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1684C>T (p.Arg562Cys) single nucleotide variant not provided [RCV003428532] Chr5:68295263 [GRCh38]
Chr5:67591091 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly) single nucleotide variant SHORT syndrome [RCV003797456] Chr5:68273962 [GRCh38]
Chr5:67569790 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.335-3C>T single nucleotide variant SHORT syndrome [RCV003807907] Chr5:68273387 [GRCh38]
Chr5:67569215 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp) single nucleotide variant SHORT syndrome [RCV003790812] Chr5:68295470 [GRCh38]
Chr5:67591298 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1119-13A>T single nucleotide variant SHORT syndrome [RCV003795063] Chr5:68293290 [GRCh38]
Chr5:67589118 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg) single nucleotide variant SHORT syndrome [RCV003797397] Chr5:68226950 [GRCh38]
Chr5:67522778 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly) single nucleotide variant SHORT syndrome [RCV003792770] Chr5:68273468 [GRCh38]
Chr5:67569296 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.699T>G (p.Pro233=) single nucleotide variant SHORT syndrome [RCV003797507] Chr5:68280592 [GRCh38]
Chr5:67576420 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp) single nucleotide variant SHORT syndrome [RCV003797255] Chr5:68226858 [GRCh38]
Chr5:67522686 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.936A>C (p.Pro312=) single nucleotide variant SHORT syndrome [RCV003807207] Chr5:68292278 [GRCh38]
Chr5:67588106 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=) single nucleotide variant SHORT syndrome [RCV003788016] Chr5:68280550 [GRCh38]
Chr5:67576378 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.25A>C (p.Arg9=) single nucleotide variant SHORT syndrome [RCV003796124] Chr5:68226700 [GRCh38]
Chr5:67522528 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln) single nucleotide variant SHORT syndrome [RCV003805831] Chr5:68297517 [GRCh38]
Chr5:67593345 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1019+16C>G single nucleotide variant SHORT syndrome [RCV003781353] Chr5:68292377 [GRCh38]
Chr5:67588205 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1718T>C (p.Leu573Pro) single nucleotide variant Overgrowth syndrome [RCV003493323] Chr5:68295297 [GRCh38]
Chr5:67591125 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His) single nucleotide variant SHORT syndrome [RCV003786001] Chr5:68279706 [GRCh38]
Chr5:67575534 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1985+19C>A single nucleotide variant SHORT syndrome [RCV003794292] Chr5:68296360 [GRCh38]
Chr5:67592188 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.909T>C (p.Pro303=) single nucleotide variant SHORT syndrome [RCV003793760] Chr5:68280999 [GRCh38]
Chr5:67576827 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe) single nucleotide variant SHORT syndrome [RCV003787538] Chr5:68297573 [GRCh38]
Chr5:67593401 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.918A>G (p.Ala306=) single nucleotide variant SHORT syndrome [RCV003795337] Chr5:68292260 [GRCh38]
Chr5:67588088 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs) deletion SHORT syndrome [RCV003805081] Chr5:68295226..68295250 [GRCh38]
Chr5:67591054..67591078 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.1118+11del deletion SHORT syndrome [RCV003782161] Chr5:68293208 [GRCh38]
Chr5:67589036 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala) single nucleotide variant SHORT syndrome [RCV003793229] Chr5:68279679 [GRCh38]
Chr5:67575507 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr) single nucleotide variant SHORT syndrome [RCV003804177] Chr5:68295255 [GRCh38]
Chr5:67591083 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1019+5_1019+7del deletion SHORT syndrome [RCV003784250] Chr5:68292366..68292368 [GRCh38]
Chr5:67588194..67588196 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu) single nucleotide variant SHORT syndrome [RCV003794910] Chr5:68296216 [GRCh38]
Chr5:67592044 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser) single nucleotide variant SHORT syndrome [RCV003789919] Chr5:68280935 [GRCh38]
Chr5:67576763 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.102A>G (p.Lys34=) single nucleotide variant SHORT syndrome [RCV003789977] Chr5:68226777 [GRCh38]
Chr5:67522605 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys) single nucleotide variant SHORT syndrome [RCV003782301] Chr5:68280549 [GRCh38]
Chr5:67576377 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln) single nucleotide variant SHORT syndrome [RCV003791808] Chr5:68297597 [GRCh38]
Chr5:67593425 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.635-10A>T single nucleotide variant SHORT syndrome [RCV003793487] Chr5:68280518 [GRCh38]
Chr5:67576346 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.858C>T (p.Leu286=) single nucleotide variant SHORT syndrome [RCV003780219] Chr5:68280948 [GRCh38]
Chr5:67576776 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn) deletion SHORT syndrome [RCV003805080] Chr5:68294649..68294657 [GRCh38]
Chr5:67590477..67590485 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.917-5T>A single nucleotide variant SHORT syndrome [RCV003794594] Chr5:68292254 [GRCh38]
Chr5:67588082 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=) single nucleotide variant SHORT syndrome [RCV003786448] Chr5:68293402 [GRCh38]
Chr5:67589230 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys) single nucleotide variant SHORT syndrome [RCV003804917] Chr5:68280945 [GRCh38]
Chr5:67576773 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1815-12C>T single nucleotide variant SHORT syndrome [RCV003790158] Chr5:68296159 [GRCh38]
Chr5:67591987 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg) single nucleotide variant SHORT syndrome [RCV003795217] Chr5:68273429 [GRCh38]
Chr5:67569257 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.105G>A (p.Gly35=) single nucleotide variant SHORT syndrome [RCV003796863] Chr5:68226780 [GRCh38]
Chr5:67522608 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln) single nucleotide variant SHORT syndrome [RCV003797095] Chr5:68280992 [GRCh38]
Chr5:67576820 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=) single nucleotide variant SHORT syndrome [RCV003795752] Chr5:68280601 [GRCh38]
Chr5:67576429 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1300-15T>C single nucleotide variant SHORT syndrome [RCV003807368] Chr5:68293694 [GRCh38]
Chr5:67589522 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val) single nucleotide variant SHORT syndrome [RCV003784566] Chr5:68280704 [GRCh38]
Chr5:67576532 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu) single nucleotide variant SHORT syndrome [RCV003795818] Chr5:68226882 [GRCh38]
Chr5:67522710 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn) single nucleotide variant SHORT syndrome [RCV003792159] Chr5:68279616 [GRCh38]
Chr5:67575444 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala) single nucleotide variant SHORT syndrome [RCV003789153] Chr5:68226974 [GRCh38]
Chr5:67522802 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=) single nucleotide variant SHORT syndrome [RCV003782091] Chr5:68293101 [GRCh38]
Chr5:67588929 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His) single nucleotide variant SHORT syndrome [RCV003781116] Chr5:68293400 [GRCh38]
Chr5:67589228 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=) single nucleotide variant SHORT syndrome [RCV003780620] Chr5:68293408 [GRCh38]
Chr5:67589236 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.2115G>A (p.Gln705=) single nucleotide variant SHORT syndrome [RCV003787235] Chr5:68297541 [GRCh38]
Chr5:67593369 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp) single nucleotide variant SHORT syndrome [RCV003790497] Chr5:68226943 [GRCh38]
Chr5:67522771 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.335-15T>G single nucleotide variant SHORT syndrome [RCV003782961] Chr5:68273375 [GRCh38]
Chr5:67569203 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.503-5C>T single nucleotide variant SHORT syndrome [RCV003787163] Chr5:68279597 [GRCh38]
Chr5:67575425 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His) single nucleotide variant SHORT syndrome [RCV003789909] Chr5:68293824 [GRCh38]
Chr5:67589652 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr) single nucleotide variant SHORT syndrome [RCV003780025] Chr5:68279616 [GRCh38]
Chr5:67575444 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile) single nucleotide variant SHORT syndrome [RCV003782980] Chr5:68292291 [GRCh38]
Chr5:67588119 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1891C>A (p.Arg631=) single nucleotide variant SHORT syndrome [RCV003791775] Chr5:68296247 [GRCh38]
Chr5:67592075 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.335-21006dup duplication not specified [RCV003489106] Chr5:68252372..68252373 [GRCh38]
Chr5:67548200..67548201 [GRCh37]
Chr5:5q13.1		 benign
NM_181523.3(PIK3R1):c.318A>G (p.Ala106=) single nucleotide variant SHORT syndrome [RCV003786898] Chr5:68226993 [GRCh38]
Chr5:67522821 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1814+6T>G single nucleotide variant SHORT syndrome [RCV003812572] Chr5:68295494 [GRCh38]
Chr5:67591322 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn) single nucleotide variant SHORT syndrome [RCV003799952] Chr5:68274013 [GRCh38]
Chr5:67569841 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.225A>G (p.Glu75=) single nucleotide variant SHORT syndrome [RCV003801060] Chr5:68226900 [GRCh38]
Chr5:67522728 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1875T>C (p.Asn625=) single nucleotide variant SHORT syndrome [RCV003798936] Chr5:68296231 [GRCh38]
Chr5:67592059 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser) single nucleotide variant SHORT syndrome [RCV003797897] Chr5:68281003 [GRCh38]
Chr5:67576831 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His) single nucleotide variant SHORT syndrome [RCV003799984] Chr5:68296175 [GRCh38]
Chr5:67592003 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.916+15G>T single nucleotide variant SHORT syndrome [RCV003809486] Chr5:68281021 [GRCh38]
Chr5:67576849 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu) single nucleotide variant SHORT syndrome [RCV003808724] Chr5:68226923 [GRCh38]
Chr5:67522751 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.723G>A (p.Gln241=) single nucleotide variant SHORT syndrome [RCV003813382] Chr5:68280616 [GRCh38]
Chr5:67576444 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1300-13T>G single nucleotide variant SHORT syndrome [RCV003801852] Chr5:68293696 [GRCh38]
Chr5:67589524 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.319G>C (p.Asp107His) single nucleotide variant SHORT syndrome [RCV003798527] Chr5:68226994 [GRCh38]
Chr5:67522822 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1985+4T>G single nucleotide variant SHORT syndrome [RCV003812449] Chr5:68296345 [GRCh38]
Chr5:67592173 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs) deletion SHORT syndrome [RCV003817900] Chr5:68293711..68293718 [GRCh38]
Chr5:67589539..67589546 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.207T>C (p.Phe69=) single nucleotide variant SHORT syndrome [RCV003799351] Chr5:68226882 [GRCh38]
Chr5:67522710 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1425+11T>A single nucleotide variant SHORT syndrome [RCV003799831] Chr5:68293845 [GRCh38]
Chr5:67589673 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.969T>C (p.Asn323=) single nucleotide variant SHORT syndrome [RCV003809089] Chr5:68292311 [GRCh38]
Chr5:67588139 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln) single nucleotide variant SHORT syndrome [RCV003812507] Chr5:68295282 [GRCh38]
Chr5:67591110 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1914G>A (p.Leu638=) single nucleotide variant SHORT syndrome [RCV003812782] Chr5:68296270 [GRCh38]
Chr5:67592098 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs) deletion SHORT syndrome [RCV003812711] Chr5:68293721..68293724 [GRCh38]
Chr5:67589549..67589552 [GRCh37]
Chr5:5q13.1		 pathogenic
NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly) single nucleotide variant SHORT syndrome [RCV003813324] Chr5:68280932 [GRCh38]
Chr5:67576760 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile) single nucleotide variant SHORT syndrome [RCV003813663] Chr5:68293173 [GRCh38]
Chr5:67589001 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1568+4G>C single nucleotide variant SHORT syndrome [RCV003808342] Chr5:68294682 [GRCh38]
Chr5:67590510 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.836+14G>A single nucleotide variant SHORT syndrome [RCV003798736] Chr5:68280743 [GRCh38]
Chr5:67576571 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.535G>A (p.Val179Met) single nucleotide variant SHORT syndrome [RCV003803474] Chr5:68279634 [GRCh38]
Chr5:67575462 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly) single nucleotide variant SHORT syndrome [RCV003802841] Chr5:68293123 [GRCh38]
Chr5:67588951 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe) single nucleotide variant SHORT syndrome [RCV003802164] Chr5:68280551 [GRCh38]
Chr5:67576379 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1719G>A (p.Leu573=) single nucleotide variant SHORT syndrome [RCV003803327] Chr5:68295298 [GRCh38]
Chr5:67591126 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.943A>C (p.Thr315Pro) single nucleotide variant PIK3R1-related condition [RCV003896328] Chr5:68292285 [GRCh38]
Chr5:67588113 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.917-1501C>T single nucleotide variant PIK3R1-related condition [RCV003967063] Chr5:68290758 [GRCh38]
Chr5:67586586 [GRCh37]
Chr5:5q13.1		 likely benign
NM_181523.3(PIK3R1):c.472C>T (p.Leu158=) single nucleotide variant not provided [RCV003887266] Chr5:68273983 [GRCh38]
Chr5:67569811 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.964A>C (p.Met322Leu) single nucleotide variant PIK3R1-related condition [RCV003947174] Chr5:68292306 [GRCh38]
Chr5:67588134 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys) single nucleotide variant Immunodeficiency 36 [RCV003337825]|SHORT syndrome [RCV003777437] Chr5:68295207 [GRCh38]
Chr5:67591035 [GRCh37]
Chr5:5q13.1		 uncertain significance
NM_181523.3(PIK3R1):c.1568+10dup duplication SHORT syndrome [RCV002084659] Chr5:68294685..68294686 [GRCh38]
Chr5:67590513..67590514 [GRCh37]
Chr5:5q13.1		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI20943204
MIR29Ahsa-miR-29a-3pMirecordsexternal_infoNANA19079265
MIR376A2hsa-miR-376a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22684007
MIR376A2hsa-miR-376a-3pOncomiRDBexternal_infoNANA22684007
MIR376A1hsa-miR-376a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22684007
MIR376A1hsa-miR-376a-3pOncomiRDBexternal_infoNANA22684007
MIR221hsa-miR-221-5pMirecordsexternal_info{changed}NA20505758
MIR155hsa-miR-155-5pOncomiRDBexternal_infoNANA22609116

Predicted Target Of
Summary Value
Count of predictions:8086
Count of miRNA genes:1165
Interacting mature miRNAs:1470
Transcripts:ENST00000274335, ENST00000320694, ENST00000336483, ENST00000396611, ENST00000517412, ENST00000517643, ENST00000517698, ENST00000518292, ENST00000518813, ENST00000519025, ENST00000520550, ENST00000520675, ENST00000521381, ENST00000521409, ENST00000521657, ENST00000522084, ENST00000523807, ENST00000523872
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.

Markers in Region
RH45585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,528,609 - 67,528,851UniSTSGRCh37
Build 36567,564,365 - 67,564,607RGDNCBI36
Celera564,526,976 - 64,527,218RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,485,881 - 64,486,123UniSTS
GeneMap99-GB4 RH Map5341.34UniSTS
SHGC-36976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,594,284 - 67,594,358UniSTSGRCh37
Build 36567,630,040 - 67,630,114RGDNCBI36
Celera564,593,816 - 64,593,890RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,551,805 - 64,551,879UniSTS
GeneMap99-G3 RH Map52478.0UniSTS
RH75365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,565,554 - 67,565,679UniSTSGRCh37
Build 36567,601,310 - 67,601,435RGDNCBI36
Celera564,564,005 - 64,564,130RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,523,065 - 64,523,190UniSTS
RH94245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,534,621 - 67,534,779UniSTSGRCh37
Build 36567,570,377 - 67,570,535RGDNCBI36
Celera564,532,988 - 64,533,146RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,491,889 - 64,492,047UniSTS
GeneMap99-GB4 RH Map5341.34UniSTS
RH36897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,595,695 - 67,595,753UniSTSGRCh37
GRCh371255,729,774 - 55,730,365UniSTSGRCh37
Build 36567,631,451 - 67,631,509RGDNCBI36
Celera1255,381,839 - 55,382,430UniSTS
Celera564,595,227 - 64,595,285RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,553,216 - 64,553,274UniSTS
HuRef1252,768,289 - 52,768,880UniSTS
RH123681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,551,499 - 67,551,775UniSTSGRCh37
Build 36567,587,255 - 67,587,531RGDNCBI36
Celera564,549,861 - 64,550,137RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,508,765 - 64,509,041UniSTS
TNG Radiation Hybrid Map531115.0UniSTS
GDB:631841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,593,455 - 67,593,623UniSTSGRCh37
Build 36567,629,211 - 67,629,379RGDNCBI36
Celera564,592,987 - 64,593,155RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,550,976 - 64,551,144UniSTS
SHGC-107225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,524,566 - 67,524,878UniSTSGRCh37
Build 36567,560,322 - 67,560,634RGDNCBI36
Celera564,522,933 - 64,523,245RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,481,839 - 64,482,151UniSTS
TNG Radiation Hybrid Map531164.0UniSTS
PMC291832P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,521,671 - 67,522,461UniSTSGRCh37
Build 36567,557,427 - 67,558,217RGDNCBI36
Celera564,520,038 - 64,520,828RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,478,939 - 64,479,729UniSTS
PMC291832P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,521,897 - 67,522,461UniSTSGRCh37
Build 36567,557,653 - 67,558,217RGDNCBI36
Celera564,520,264 - 64,520,828RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,479,165 - 64,479,729UniSTS
RH44517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,594,199 - 67,594,321UniSTSGRCh37
Build 36567,629,955 - 67,630,077RGDNCBI36
Celera564,593,731 - 64,593,853RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,551,720 - 64,551,842UniSTS
GeneMap99-GB4 RH Map5341.12UniSTS
NCBI RH Map5313.3UniSTS
PIK3R1_8543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,593,556 - 67,594,476UniSTSGRCh37
Build 36567,629,312 - 67,630,232RGDNCBI36
Celera564,593,088 - 64,594,008RGD
HuRef564,551,077 - 64,551,997UniSTS
A003N10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,594,865 - 67,595,023UniSTSGRCh37
Build 36567,630,621 - 67,630,779RGDNCBI36
Celera564,594,397 - 64,594,555RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,552,386 - 64,552,544UniSTS
GeneMap99-GB4 RH Map5342.01UniSTS
Whitehead-RH Map5246.8UniSTS
NCBI RH Map5313.3UniSTS
SHGC-36907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,595,812 - 67,595,936UniSTSGRCh37
Build 36567,631,568 - 67,631,692RGDNCBI36
Celera564,595,344 - 64,595,468RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,553,333 - 64,553,457UniSTS
Stanford-G3 RH Map52479.0UniSTS
GeneMap99-GB4 RH Map5340.34UniSTS
Whitehead-RH Map5246.0UniSTS
NCBI RH Map5310.8UniSTS
GeneMap99-G3 RH Map52474.0UniSTS
WI-16112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,585,455 - 67,585,579UniSTSGRCh37
Build 36567,621,211 - 67,621,335RGDNCBI36
Celera564,584,987 - 64,585,111RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,542,970 - 64,543,094UniSTS
GeneMap99-GB4 RH Map5339.79UniSTS
Whitehead-RH Map5246.2UniSTS
NCBI RH Map5313.3UniSTS
WI-12591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,594,912 - 67,595,038UniSTSGRCh37
Build 36567,630,668 - 67,630,794RGDNCBI36
Celera564,594,444 - 64,594,570RGD
Cytogenetic Map5q13.1UniSTS
HuRef564,552,433 - 64,552,559UniSTS
GeneMap99-GB4 RH Map5340.34UniSTS
Whitehead-RH Map5247.4UniSTS
NCBI RH Map5313.3UniSTS
RH17716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37567,594,213 - 67,594,482UniSTSGRCh37
Build 36567,629,969 - 67,630,238RGDNCBI36
Celera564,593,745 - 64,594,014RGD
Cytogenetic Map5q13.1UniSTS
GeneMap99-GB4 RH Map5337.85UniSTS
NCBI RH Map5313.3UniSTS
SGC31850  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q13.1UniSTS
GeneMap99-GB4 RH Map5341.0UniSTS
Whitehead-RH Map5247.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2238 2252 1431 554 1439 393 4070 1910 3310 266 1106 1448 166 1201 2692 3
Low 193 731 292 70 511 71 285 283 407 152 346 161 6 3 96 1 2
Below cutoff 3 3 1 1 1 2 12 1 6 3 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI124626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI334281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW630519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE888150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ723333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA427864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB216668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT003423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA487709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX133164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX133165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M61906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320694   ⟹   ENSP00000323512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,288,052 - 68,301,480 (+)Ensembl
RefSeq Acc Id: ENST00000336483   ⟹   ENSP00000338554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,290,513 - 68,301,480 (+)Ensembl
RefSeq Acc Id: ENST00000517412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,215,740 - 68,275,497 (+)Ensembl
RefSeq Acc Id: ENST00000517643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,216,560 - 68,300,110 (+)Ensembl
RefSeq Acc Id: ENST00000517698   ⟹   ENSP00000430424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,290,650 - 68,298,632 (+)Ensembl
RefSeq Acc Id: ENST00000518292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,290,672 - 68,293,392 (+)Ensembl
RefSeq Acc Id: ENST00000518813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,290,800 - 68,298,605 (+)Ensembl
RefSeq Acc Id: ENST00000519025   ⟹   ENSP00000429156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,292,486 - 68,294,658 (+)Ensembl
RefSeq Acc Id: ENST00000520550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,292,683 - 68,295,743 (+)Ensembl
RefSeq Acc Id: ENST00000520675   ⟹   ENSP00000428566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,239,898 - 68,280,582 (+)Ensembl
RefSeq Acc Id: ENST00000521381   ⟹   ENSP00000428056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,215,756 - 68,301,821 (+)Ensembl
RefSeq Acc Id: ENST00000521409   ⟹   ENSP00000431058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,288,695 - 68,294,612 (+)Ensembl
RefSeq Acc Id: ENST00000521657   ⟹   ENSP00000429277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,215,753 - 68,301,480 (+)Ensembl
RefSeq Acc Id: ENST00000522084   ⟹   ENSP00000429766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,280,291 - 68,298,376 (+)Ensembl
RefSeq Acc Id: ENST00000523807   ⟹   ENSP00000430126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,280,240 - 68,293,346 (+)Ensembl
RefSeq Acc Id: ENST00000523872   ⟹   ENSP00000430098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,292,568 - 68,298,756 (+)Ensembl
RefSeq Acc Id: ENST00000697457   ⟹   ENSP00000513315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,215,759 - 68,301,363 (+)Ensembl
RefSeq Acc Id: ENST00000697458   ⟹   ENSP00000513316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,216,062 - 68,298,553 (+)Ensembl
RefSeq Acc Id: ENST00000697459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,226,459 - 68,243,032 (+)Ensembl
RefSeq Acc Id: ENST00000697460   ⟹   ENSP00000513318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,227,962 - 68,298,468 (+)Ensembl
RefSeq Acc Id: ENST00000697461   ⟹   ENSP00000513319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,215,741 - 68,301,342 (+)Ensembl
RefSeq Acc Id: ENST00000697462   ⟹   ENSP00000513320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,290,620 - 68,301,370 (+)Ensembl
RefSeq Acc Id: ENST00000697463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,292,441 - 68,301,370 (+)Ensembl
RefSeq Acc Id: ENST00000697464   ⟹   ENSP00000513322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,290,723 - 68,298,721 (+)Ensembl
RefSeq Acc Id: ENST00000697465   ⟹   ENSP00000513323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,290,800 - 68,301,480 (+)Ensembl
RefSeq Acc Id: ENST00000697466   ⟹   ENSP00000513324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,291,047 - 68,301,480 (+)Ensembl
RefSeq Acc Id: ENST00000697467   ⟹   ENSP00000513325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,292,577 - 68,301,480 (+)Ensembl
RefSeq Acc Id: ENST00000697468   ⟹   ENSP00000513326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,292,600 - 68,298,560 (+)Ensembl
RefSeq Acc Id: ENST00000697469   ⟹   ENSP00000513327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,293,718 - 68,298,721 (+)Ensembl
RefSeq Acc Id: ENST00000697470   ⟹   ENSP00000513328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,293,814 - 68,297,937 (+)Ensembl
RefSeq Acc Id: ENST00000697555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,215,771 - 68,244,002 (+)Ensembl
RefSeq Acc Id: ENST00000697556   ⟹   ENSP00000513334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,226,542 - 68,293,722 (+)Ensembl
RefSeq Acc Id: ENST00000697557   ⟹   ENSP00000513335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl568,292,540 - 68,298,430 (+)Ensembl
RefSeq Acc Id: NM_001242466   ⟹   NP_001229395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,292,577 - 68,301,821 (+)NCBI
GRCh37567,511,584 - 67,597,649 (+)ENTREZGENE
HuRef564,468,818 - 64,555,164 (+)ENTREZGENE
CHM1_1567,588,494 - 67,597,747 (+)NCBI
T2T-CHM13v2.0569,114,881 - 69,124,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181504   ⟹   NP_852556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,290,664 - 68,301,821 (+)NCBI
GRCh37567,511,584 - 67,597,649 (+)ENTREZGENE
Build 36567,622,251 - 67,633,405 (+)NCBI Archive
HuRef564,468,818 - 64,555,164 (+)ENTREZGENE
CHM1_1567,586,565 - 67,597,747 (+)NCBI
T2T-CHM13v2.0569,112,968 - 69,124,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181523   ⟹   NP_852664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,215,756 - 68,301,821 (+)NCBI
GRCh37567,511,584 - 67,597,649 (+)ENTREZGENE
Build 36567,558,218 - 67,633,405 (+)NCBI Archive
HuRef564,468,818 - 64,555,164 (+)ENTREZGENE
CHM1_1567,511,846 - 67,597,747 (+)NCBI
T2T-CHM13v2.0569,037,982 - 69,124,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181524   ⟹   NP_852665
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,288,519 - 68,301,821 (+)NCBI
GRCh37567,511,584 - 67,597,649 (+)ENTREZGENE
Build 36567,620,008 - 67,633,405 (+)NCBI Archive
HuRef564,468,818 - 64,555,164 (+)ENTREZGENE
CHM1_1567,584,350 - 67,597,747 (+)NCBI
T2T-CHM13v2.0569,110,823 - 69,124,117 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248542   ⟹   XP_005248599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,215,756 - 68,301,821 (+)NCBI
GRCh37567,511,584 - 67,597,649 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009585   ⟹   XP_016865074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,216,023 - 68,301,821 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417315   ⟹   XP_047273271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,216,538 - 68,301,821 (+)NCBI
RefSeq Acc Id: XM_047417316   ⟹   XP_047273272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,239,845 - 68,301,821 (+)NCBI
RefSeq Acc Id: XM_047417317   ⟹   XP_047273273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,239,845 - 68,301,821 (+)NCBI
RefSeq Acc Id: XM_054352826   ⟹   XP_054208801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0569,037,928 - 69,124,117 (+)NCBI
RefSeq Acc Id: XM_054352827   ⟹   XP_054208802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0569,038,764 - 69,124,117 (+)NCBI
RefSeq Acc Id: XM_054352828   ⟹   XP_054208803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0569,038,249 - 69,124,117 (+)NCBI
RefSeq Acc Id: XM_054352829   ⟹   XP_054208804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0569,063,043 - 69,124,117 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001229395 (Get FASTA)   NCBI Sequence Viewer  
  NP_852556 (Get FASTA)   NCBI Sequence Viewer  
  NP_852664 (Get FASTA)   NCBI Sequence Viewer  
  NP_852665 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248599 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273271 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273272 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208804 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB04140 (Get FASTA)   NCBI Sequence Viewer  
  AAH30815 (Get FASTA)   NCBI Sequence Viewer  
  AAH94795 (Get FASTA)   NCBI Sequence Viewer  
  AAO15359 (Get FASTA)   NCBI Sequence Viewer  
  AFP86291 (Get FASTA)   NCBI Sequence Viewer  
  AFP86292 (Get FASTA)   NCBI Sequence Viewer  
  BAD97333 (Get FASTA)   NCBI Sequence Viewer  
  BAG52931 (Get FASTA)   NCBI Sequence Viewer  
  BAG54309 (Get FASTA)   NCBI Sequence Viewer  
  BAH11924 (Get FASTA)   NCBI Sequence Viewer  
  BAH13115 (Get FASTA)   NCBI Sequence Viewer  
  EAW51311 (Get FASTA)   NCBI Sequence Viewer  
  EAW51312 (Get FASTA)   NCBI Sequence Viewer  
  EAW51313 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000323512
  ENSP00000323512.8
  ENSP00000338554
  ENSP00000338554.5
  ENSP00000428056
  ENSP00000428056.1
  ENSP00000428566.2
  ENSP00000429156.2
  ENSP00000429277
  ENSP00000429277.1
  ENSP00000429766.2
  ENSP00000430098
  ENSP00000430098.1
  ENSP00000430126.1
  ENSP00000430424.1
  ENSP00000431058.1
  ENSP00000513315.1
  ENSP00000513316
  ENSP00000513316.1
  ENSP00000513318
  ENSP00000513318.1
  ENSP00000513319.1
  ENSP00000513320.1
  ENSP00000513322.1
  ENSP00000513323.1
  ENSP00000513324.1
  ENSP00000513325.1
  ENSP00000513326.1
  ENSP00000513327.1
  ENSP00000513328.1
  ENSP00000513333
  ENSP00000513333.1
  ENSP00000513334.1
  ENSP00000513335.1
GenBank Protein P27986 (Get FASTA)   NCBI Sequence Viewer  
  SPT35778 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_852664   ⟸   NM_181523
- Peptide Label: isoform 1
- UniProtKB: Q8IXA2 (UniProtKB/Swiss-Prot),   Q53EM6 (UniProtKB/Swiss-Prot),   Q4VBZ7 (UniProtKB/Swiss-Prot),   Q15747 (UniProtKB/Swiss-Prot),   E7EX19 (UniProtKB/Swiss-Prot),   D3DWA0 (UniProtKB/Swiss-Prot),   B3KT19 (UniProtKB/Swiss-Prot),   Q8N1C5 (UniProtKB/Swiss-Prot),   P27986 (UniProtKB/Swiss-Prot),   A0A2X0SFG1 (UniProtKB/TrEMBL),   A0A8V8TL10 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_852665   ⟸   NM_181524
- Peptide Label: isoform 3
- UniProtKB: B3KWZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_852556   ⟸   NM_181504
- Peptide Label: isoform 2
- UniProtKB: A0A8V8TME9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229395   ⟸   NM_001242466
- Peptide Label: isoform 4
- UniProtKB: A0A8V8TLF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248599   ⟸   XM_005248542
- Peptide Label: isoform X1
- UniProtKB: Q8IXA2 (UniProtKB/Swiss-Prot),   Q53EM6 (UniProtKB/Swiss-Prot),   Q4VBZ7 (UniProtKB/Swiss-Prot),   Q15747 (UniProtKB/Swiss-Prot),   E7EX19 (UniProtKB/Swiss-Prot),   D3DWA0 (UniProtKB/Swiss-Prot),   B3KT19 (UniProtKB/Swiss-Prot),   Q8N1C5 (UniProtKB/Swiss-Prot),   P27986 (UniProtKB/Swiss-Prot),   A0A2X0SFG1 (UniProtKB/TrEMBL),   A0A8V8TL10 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865074   ⟸   XM_017009585
- Peptide Label: isoform X1
- UniProtKB: Q8IXA2 (UniProtKB/Swiss-Prot),   Q53EM6 (UniProtKB/Swiss-Prot),   Q4VBZ7 (UniProtKB/Swiss-Prot),   Q15747 (UniProtKB/Swiss-Prot),   E7EX19 (UniProtKB/Swiss-Prot),   D3DWA0 (UniProtKB/Swiss-Prot),   B3KT19 (UniProtKB/Swiss-Prot),   Q8N1C5 (UniProtKB/Swiss-Prot),   P27986 (UniProtKB/Swiss-Prot),   A0A2X0SFG1 (UniProtKB/TrEMBL),   A0A8V8TL10 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430424   ⟸   ENST00000517698
RefSeq Acc Id: ENSP00000429156   ⟸   ENST00000519025
RefSeq Acc Id: ENSP00000323512   ⟸   ENST00000320694
RefSeq Acc Id: ENSP00000338554   ⟸   ENST00000336483
RefSeq Acc Id: ENSP00000428566   ⟸   ENST00000520675
RefSeq Acc Id: ENSP00000428056   ⟸   ENST00000521381
RefSeq Acc Id: ENSP00000429277   ⟸   ENST00000521657
RefSeq Acc Id: ENSP00000431058   ⟸   ENST00000521409
RefSeq Acc Id: ENSP00000429766   ⟸   ENST00000522084
RefSeq Acc Id: ENSP00000430126   ⟸   ENST00000523807
RefSeq Acc Id: ENSP00000430098   ⟸   ENST00000523872
RefSeq Acc Id: XP_047273271   ⟸   XM_047417315
- Peptide Label: isoform X1
- UniProtKB: Q8IXA2 (UniProtKB/Swiss-Prot),   Q53EM6 (UniProtKB/Swiss-Prot),   Q4VBZ7 (UniProtKB/Swiss-Prot),   Q15747 (UniProtKB/Swiss-Prot),   P27986 (UniProtKB/Swiss-Prot),   E7EX19 (UniProtKB/Swiss-Prot),   D3DWA0 (UniProtKB/Swiss-Prot),   B3KT19 (UniProtKB/Swiss-Prot),   Q8N1C5 (UniProtKB/Swiss-Prot),   A0A2X0SFG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273272   ⟸   XM_047417316
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047273273   ⟸   XM_047417317
- Peptide Label: isoform X2
RefSeq Acc Id: ENSP00000513316   ⟸   ENST00000697458
RefSeq Acc Id: ENSP00000513315   ⟸   ENST00000697457
RefSeq Acc Id: ENSP00000513335   ⟸   ENST00000697557
RefSeq Acc Id: ENSP00000513318   ⟸   ENST00000697460
RefSeq Acc Id: ENSP00000513325   ⟸   ENST00000697467
RefSeq Acc Id: ENSP00000513319   ⟸   ENST00000697461
RefSeq Acc Id: ENSP00000513320   ⟸   ENST00000697462
RefSeq Acc Id: ENSP00000513327   ⟸   ENST00000697469
RefSeq Acc Id: ENSP00000513323   ⟸   ENST00000697465
RefSeq Acc Id: ENSP00000513322   ⟸   ENST00000697464
RefSeq Acc Id: ENSP00000513324   ⟸   ENST00000697466
RefSeq Acc Id: ENSP00000513328   ⟸   ENST00000697470
RefSeq Acc Id: ENSP00000513334   ⟸   ENST00000697556
RefSeq Acc Id: ENSP00000513326   ⟸   ENST00000697468
RefSeq Acc Id: XP_054208801   ⟸   XM_054352826
- Peptide Label: isoform X1
- UniProtKB: Q8N1C5 (UniProtKB/Swiss-Prot),   Q8IXA2 (UniProtKB/Swiss-Prot),   Q53EM6 (UniProtKB/Swiss-Prot),   Q4VBZ7 (UniProtKB/Swiss-Prot),   Q15747 (UniProtKB/Swiss-Prot),   P27986 (UniProtKB/Swiss-Prot),   E7EX19 (UniProtKB/Swiss-Prot),   D3DWA0 (UniProtKB/Swiss-Prot),   B3KT19 (UniProtKB/Swiss-Prot),   A0A2X0SFG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208803   ⟸   XM_054352828
- Peptide Label: isoform X1
- UniProtKB: Q8N1C5 (UniProtKB/Swiss-Prot),   Q8IXA2 (UniProtKB/Swiss-Prot),   Q53EM6 (UniProtKB/Swiss-Prot),   Q4VBZ7 (UniProtKB/Swiss-Prot),   Q15747 (UniProtKB/Swiss-Prot),   P27986 (UniProtKB/Swiss-Prot),   E7EX19 (UniProtKB/Swiss-Prot),   D3DWA0 (UniProtKB/Swiss-Prot),   B3KT19 (UniProtKB/Swiss-Prot),   A0A2X0SFG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208802   ⟸   XM_054352827
- Peptide Label: isoform X1
- UniProtKB: Q8N1C5 (UniProtKB/Swiss-Prot),   Q53EM6 (UniProtKB/Swiss-Prot),   Q8IXA2 (UniProtKB/Swiss-Prot),   Q4VBZ7 (UniProtKB/Swiss-Prot),   Q15747 (UniProtKB/Swiss-Prot),   P27986 (UniProtKB/Swiss-Prot),   E7EX19 (UniProtKB/Swiss-Prot),   D3DWA0 (UniProtKB/Swiss-Prot),   B3KT19 (UniProtKB/Swiss-Prot),   A0A2X0SFG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208804   ⟸   XM_054352829
- Peptide Label: isoform X2
Protein Domains
Rho-GAP   SH2   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P27986-F1-model_v2 AlphaFold P27986 1-724 view protein structure

Promoters
RGD ID:6812797
Promoter ID:HG_ACW:63634
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:PIK3R1.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36567,547,931 - 67,548,431 (+)MPROMDB
RGD ID:6815519
Promoter ID:HG_MRA:12672
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK299743
Position:
Human AssemblyChrPosition (strand)Source
Build 36567,605,256 - 67,605,756 (+)MPROMDB
RGD ID:6803464
Promoter ID:HG_KWN:50294
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_181524
Position:
Human AssemblyChrPosition (strand)Source
Build 36567,619,646 - 67,620,487 (+)MPROMDB
RGD ID:6803463
Promoter ID:HG_KWN:50295
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_181504,   UC003JVE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36567,621,781 - 67,622,281 (+)MPROMDB
RGD ID:6869778
Promoter ID:EPDNEW_H8049
Type:initiation region
Name:PIK3R1_1
Description:phosphoinositide-3-kinase regulatory subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8050  EPDNEW_H8051  EPDNEW_H8052  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,215,762 - 68,215,822EPDNEW
RGD ID:6869770
Promoter ID:EPDNEW_H8050
Type:initiation region
Name:PIK3R1_4
Description:phosphoinositide-3-kinase regulatory subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8051  EPDNEW_H8052  EPDNEW_H8049  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,216,024 - 68,216,084EPDNEW
RGD ID:6869772
Promoter ID:EPDNEW_H8051
Type:initiation region
Name:PIK3R1_3
Description:phosphoinositide-3-kinase regulatory subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8050  EPDNEW_H8052  EPDNEW_H8049  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,288,401 - 68,288,461EPDNEW
RGD ID:6869774
Promoter ID:EPDNEW_H8052
Type:initiation region
Name:PIK3R1_2
Description:phosphoinositide-3-kinase regulatory subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8050  EPDNEW_H8051  EPDNEW_H8049  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38568,290,672 - 68,290,732EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8979 AgrOrtholog
COSMIC PIK3R1 COSMIC
Ensembl Genes ENSG00000145675 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320694 ENTREZGENE
  ENST00000320694.13 UniProtKB/Swiss-Prot
  ENST00000336483 ENTREZGENE
  ENST00000336483.10 UniProtKB/Swiss-Prot
  ENST00000517643 ENTREZGENE
  ENST00000517643.2 UniProtKB/Swiss-Prot
  ENST00000517698.6 UniProtKB/TrEMBL
  ENST00000519025.5 UniProtKB/TrEMBL
  ENST00000520675.1 UniProtKB/TrEMBL
  ENST00000521381 ENTREZGENE
  ENST00000521381.6 UniProtKB/Swiss-Prot
  ENST00000521409.5 UniProtKB/TrEMBL
  ENST00000521657 ENTREZGENE
  ENST00000521657.6 UniProtKB/Swiss-Prot
  ENST00000522084.6 UniProtKB/TrEMBL
  ENST00000523807.5 UniProtKB/TrEMBL
  ENST00000523872 ENTREZGENE
  ENST00000523872.1 UniProtKB/Swiss-Prot
  ENST00000697457.1 UniProtKB/TrEMBL
  ENST00000697458 ENTREZGENE
  ENST00000697458.1 UniProtKB/Swiss-Prot
  ENST00000697460 ENTREZGENE
  ENST00000697460.1 UniProtKB/TrEMBL
  ENST00000697461.1 UniProtKB/Swiss-Prot
  ENST00000697462.1 UniProtKB/TrEMBL
  ENST00000697464.1 UniProtKB/TrEMBL
  ENST00000697465.1 UniProtKB/TrEMBL
  ENST00000697466.1 UniProtKB/TrEMBL
  ENST00000697467.1 UniProtKB/Swiss-Prot
  ENST00000697468.1 UniProtKB/TrEMBL
  ENST00000697469.1 UniProtKB/TrEMBL
  ENST00000697470.1 UniProtKB/TrEMBL
  ENST00000697556.1 UniProtKB/TrEMBL
  ENST00000697557.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145675 GTEx
HGNC ID HGNC:8979 ENTREZGENE
Human Proteome Map PIK3R1 Human Proteome Map
InterPro ISH2_PIK3R1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuc_orph_rcpt UniProtKB/TrEMBL
  PI3K_P85_iSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3K_p85alpha_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3kinase_P85_cSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3kinase_P85_nSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5295 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5295 ENTREZGENE
OMIM 171833 OMIM
PANTHER PHOSPHATIDYLINOSITOL 3-KINASE REGULATORY SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHATIDYLINOSITOL 3-KINASE REGULATORY SUBUNIT ALPHA UniProtKB/TrEMBL
  PI3K21B, ISOFORM B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUPPRESSOR OF CYTOKINE SIGNALING 6 UniProtKB/TrEMBL
Pfam PI3K_P85_iSH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33312 PharmGKB
PRINTS NUCLEARECPTR UniProtKB/TrEMBL
  PI3KINASEP85 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1D8GZE1_HUMAN UniProtKB/TrEMBL
  A0A2X0SFG1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TL10 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TL14_HUMAN UniProtKB/TrEMBL
  A0A8V8TL31_HUMAN UniProtKB/TrEMBL
  A0A8V8TLE6_HUMAN UniProtKB/TrEMBL
  A0A8V8TLF1_HUMAN UniProtKB/TrEMBL
  A0A8V8TLF7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TME9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMF4_HUMAN UniProtKB/TrEMBL
  A0A8V8TMF9_HUMAN UniProtKB/TrEMBL
  B3KT19 ENTREZGENE
  B3KWZ7 ENTREZGENE, UniProtKB/TrEMBL
  D3DWA0 ENTREZGENE
  E5RGI8_HUMAN UniProtKB/TrEMBL
  E5RHI0_HUMAN UniProtKB/TrEMBL
  E5RJY0_HUMAN UniProtKB/TrEMBL
  E5RK66_HUMAN UniProtKB/TrEMBL
  E7EX19 ENTREZGENE
  H0YB27_HUMAN UniProtKB/TrEMBL
  H0YBC2_HUMAN UniProtKB/TrEMBL
  J7GU64_HUMAN UniProtKB/TrEMBL
  J7GXU7_HUMAN UniProtKB/TrEMBL
  P27986 ENTREZGENE, UniProtKB/Swiss-Prot
  Q15747 ENTREZGENE
  Q4VBZ7 ENTREZGENE
  Q53EM6 ENTREZGENE
  Q8IXA2 ENTREZGENE
  Q8N1C5 ENTREZGENE
UniProt Secondary B3KT19 UniProtKB/Swiss-Prot
  D3DWA0 UniProtKB/Swiss-Prot
  E7EX19 UniProtKB/Swiss-Prot
  Q15747 UniProtKB/Swiss-Prot
  Q4VBZ7 UniProtKB/Swiss-Prot
  Q53EM6 UniProtKB/Swiss-Prot
  Q8IXA2 UniProtKB/Swiss-Prot
  Q8N1C5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PIK3R1  phosphoinositide-3-kinase regulatory subunit 1    phosphoinositide-3-kinase, regulatory subunit 1 (alpha)  Symbol and/or name change 5135510 APPROVED