NRAS (NRAS proto-oncogene, GTPase) - Rat Genome Database

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Pathways
Gene: NRAS (NRAS proto-oncogene, GTPase) Homo sapiens
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Symbol: NRAS
Name: NRAS proto-oncogene, GTPase
RGD ID: 735648
HGNC Page HGNC:7989
Description: Enables GTPase activity. Involved in Ras protein signal transduction and positive regulation of endothelial cell proliferation. Located in extracellular exosome and membrane. Part of Golgi apparatus. Implicated in several diseases, including Noonan syndrome 6; autoimmune lymphoproliferative syndrome type 4; endocrine gland cancer (multiple); epidermal nevus; and hematologic cancer (multiple). Biomarker of cervical cancer; cholangitis; liver carcinoma; prostate cancer; and transitional cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALPS4; CMNS; GTPase NRas; KRAS; N-ras; N-ras protein part 4; NCMS; neuroblastoma RAS viral (v-ras) oncogene homolog; neuroblastoma RAS viral oncogene homolog; NRAS1; NS6; proto-oncogene GTPase; transforming protein N-Ras; v-ras neuroblastoma RAS viral oncogene homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381114,704,469 - 114,716,771 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1114,704,469 - 114,716,771 (-)Ensemblhg38GRCh38
GRCh371115,247,090 - 115,259,392 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,051,108 - 115,061,038 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341114,961,626 - 114,971,557NCBI
Celera1113,476,335 - 113,488,757 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1113,105,559 - 113,117,974 (-)NCBIHuRef
CHM1_11115,361,892 - 115,374,317 (-)NCBICHM1_1
T2T-CHM13v2.01114,715,929 - 114,728,216 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IAGP)
acute myeloid leukemia  (EXP,IAGP,ISO)
acute promyelocytic leukemia  (EXP)
adult T-cell leukemia/lymphoma  (ISO)
anemia  (IAGP)
autoimmune lymphoproliferative syndrome  (EXP)
autoimmune lymphoproliferative syndrome type 4  (IAGP)
B-cell lymphoma  (EXP)
cervical cancer  (IEP)
cholangitis  (IEP)
chronic myelogenous leukemia, BCR-ABL1 positive  (IAGP)
chronic myelomonocytic leukemia  (ISO)
colon carcinoma  (IAGP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
epidermal nevus  (EXP,IAGP)
Experimental Arthritis  (ISO)
Experimental Leukemia  (ISO)
Experimental Liver Neoplasms  (IMP)
Experimental Neoplasms  (EXP)
Experimental Sarcoma  (ISO)
focal epilepsy  (IAGP)
Follicular Thyroid Cancer  (EXP,IAGP)
follicular thyroid carcinoma  (IAGP)
gastric adenocarcinoma  (IAGP)
glioblastoma  (IAGP)
hepatocellular carcinoma  (IAGP,IGI)
hereditary spastic paraplegia 47  (IAGP)
juvenile myelomonocytic leukemia  (EXP,IAGP)
large congenital melanocytic nevus  (EXP,IAGP)
leukemia  (ISO)
Leukocytosis  (EXP)
linear nevus sebaceous syndrome  (EXP,IAGP)
liver carcinoma  (IEP)
Liver Metastasis  (IAGP)
lung non-small cell carcinoma  (IAGP)
lymphoma  (EXP)
melanoma  (EXP,IAGP)
Mouth Neoplasms  (ISO)
multiple myeloma  (IAGP)
myelodysplastic syndrome  (IAGP)
myeloid leukemia associated with Down Syndrome  (EXP,IAGP)
myeloid neoplasm  (ISO)
neuroblastoma  (EXP)
Neurocutaneous Melanosis  (EXP,IAGP)
Neurodevelopmental Disorders  (IAGP)
neurofibrosarcoma  (EXP)
Noonan syndrome  (EXP,IAGP)
Noonan syndrome 1  (IAGP)
Noonan syndrome 6  (EXP,IAGP)
prostate cancer  (IEP)
Prostate Cancer, Hereditary, 1  (IAGP)
Pyogenic Granuloma  (IAGP)
RASopathy  (IAGP)
rectal benign neoplasm  (EXP)
Sebaceous Nevus Syndrome and Hemimegalencephaly  (IAGP)
Splenomegaly  (EXP)
transitional cell carcinoma  (IEP)
Vascular Malformations  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-nitrotoluene  (ISO)
6-propyl-2-thiouracil  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
bromochloroacetic acid  (ISO)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
carboplatin  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cobimetinib  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
daunorubicin  (EXP)
deguelin  (EXP)
deoxycholic acid  (EXP)
diclofenac  (EXP)
dicrotophos  (EXP)
disulfiram  (EXP)
emamectin benzoate  (EXP)
ethanol  (ISO)
fenthion  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
FR900359  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
hydrogen cyanide  (ISO)
hydroquinone  (EXP)
isoniazide  (EXP)
ivermectin  (EXP)
L-744832  (EXP)
lipopolysaccharide  (ISO)
lovastatin  (EXP)
metformin  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methylparaben  (EXP)
microcystin-LR  (EXP,ISO)
mitomycin C  (EXP)
N-Nitrosodi-n-butylamine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP,ISO)
nitrates  (ISO)
okadaic acid  (EXP)
ouabain  (EXP)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pemetrexed  (EXP)
phenobarbital  (ISO)
phlorizin  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sorafenib  (EXP)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vemurafenib  (EXP)
vitamin E  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal EKG  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal hair quantity  (IAGP)
Abnormal leukocyte count  (IAGP)
Abnormal platelet function  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormal toe morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of dental color  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the genital system  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of vision  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenoma sebaceum  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anhidrosis  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the semicircular canal  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Arachnoid cyst  (IAGP)
Arrhythmia  (IAGP)
Astigmatism  (IAGP)
Asymmetric growth  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Bilateral ptosis  (IAGP)
Biparietal narrowing  (IAGP)
Blue irides  (IAGP)
Bone pain  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Bruising susceptibility  (IAGP)
Cafe-au-lait spot  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral calcification  (IAGP)
Choroid plexus papilloma  (IAGP)
Chronic myelogenous leukemia  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coarse hair  (IAGP)
Coloboma  (IAGP)
Colon cancer  (IAGP)
Congenital giant melanocytic nevus  (IAGP)
Congenital onset  (IAGP)
Corneal opacity  (IAGP)
Cough  (IAGP)
Cranial asymmetry  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Curly hair  (IAGP)
Cutaneous melanoma  (IAGP)
Cystic hygroma  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in infancy  (IAGP)
Decreased T cell apoptosis  (IAGP)
Decreased total leukocyte count  (IAGP)
Decreased total neutrophil count  (IAGP)
Deep philtrum  (IAGP)
Delayed menarche  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes insipidus  (IAGP)
Dilatation of the renal pelvis  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Eczematoid dermatitis  (IAGP)
Edema  (IAGP)
EEG abnormality  (IAGP)
Enlarged thorax  (IAGP)
Epicanthus  (IAGP)
Epidermal nevus  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial asymmetry  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Fever  (IAGP)
Focal-onset seizure  (IAGP)
Follicular hyperplasia  (IAGP)
Follicular thyroid carcinoma  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Generalized hypotonia  (IAGP)
Genital ulcers  (IAGP)
Genu recurvatum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hemangioma  (IAGP)
Hemihypertrophy  (IAGP)
Hemimegalencephaly  (IAGP)
Hemolytic anemia  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hyperphosphaturia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoalbuminemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased circulating immunoglobulin concentration  (IAGP)
Increased intracranial pressure  (IAGP)
Increased nuchal translucency  (IAGP)
Increased total lymphocyte count  (IAGP)
Increased total monocyte count  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, borderline  (IAGP)
Iris coloboma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile myelomonocytic leukemia  (IAGP)
Keratoconus  (IAGP)
Keratosis pilaris  (IAGP)
Kyphoscoliosis  (IAGP)
Leukemia  (IAGP)
Linear nevus sebaceous  (IAGP)
Long eyebrows  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Lymphadenopathy  (IAGP)
Lymphedema  (IAGP)
Lymphoma  (IAGP)
Lymphoproliferative disorder  (IAGP)
Macrocephaly  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Meningioma  (IAGP)
Mental deterioration  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Multiple lentigines  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Narrow nasal ridge  (IAGP)
Neoplasm of the stomach  (IAGP)
Neurodevelopmental delay  (IAGP)
Nevus  (IAGP)
Nevus sebaceous  (IAGP)
Nevus spilus  (IAGP)
Non-medullary thyroid carcinoma  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Numerous congenital melanocytic nevi  (IAGP)
Numerous nevi  (IAGP)
Nystagmus  (IAGP)
Open mouth  (IAGP)
Ophthalmoplegia  (IAGP)
Oral ulcer  (IAGP)
Osteolysis  (IAGP)
Osteopenia  (IAGP)
Overgrowth  (IAGP)
Pancytopenia  (IAGP)
Papillary thyroid carcinoma  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Periorbital fullness  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Poor wound healing  (IAGP)
Porencephalic cyst  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Precocious puberty  (IAGP)
Premature atrial contractions  (IAGP)
Premature thelarche  (IAGP)
Prominence of the premaxilla  (IAGP)
Prominent forehead  (IAGP)
Prominent occiput  (IAGP)
Proptosis  (IAGP)
Pruritus  (IAGP)
Ptosis  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonary Langerhans cell histiocytosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent fractures  (IAGP)
Recurrent infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced circulating growth hormone concentration  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal cell carcinoma  (IAGP)
Respiratory insufficiency  (IAGP)
Round face  (IAGP)
Sclerosing cholangitis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Single umbilical artery  (IAGP)
Skin rash  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Spinal cord compression  (IAGP)
Splenomegaly  (IAGP)
Spontaneous pneumothorax  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Syringomyelia  (IAGP)
Telecanthus  (IAGP)
Thick lower lip vermilion  (IAGP)
Thickened helices  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thrombocytopenia  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Triangular face  (IAGP)
Typified by somatic mosaicism  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral segmentation defect  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Tumour mutation status and sites of metastasis in patients with cutaneous melanoma. Adler NR, etal., Br J Cancer. 2017 Sep 26;117(7):1026-1035. doi: 10.1038/bjc.2017.254. Epub 2017 Aug 8.
2. Activation of RAS family genes in urothelial carcinoma. Boulalas I, etal., J Urol. 2009 May;181(5):2312-9. Epub 2009 Mar 19.
3. Somatic integration of an oncogene-harboring Sleeping Beauty transposon models liver tumor development in the mouse. Carlson CM, etal., Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17059-64. doi: 10.1073/pnas.0502974102. Epub 2005 Nov 14.
4. Comparison of liver oncogenic potential among human RAS isoforms. Chung SI, etal., Oncotarget. 2016 Feb 9;7(6):7354-66. doi: 10.18632/oncotarget.6931.
5. Neuroblastoma RAS Viral Oncogene Homolog (NRAS) Is a Novel Prognostic Marker and Contributes to Sorafenib Resistance in Hepatocellular Carcinoma. Dietrich P, etal., Neoplasia. 2019 Mar;21(3):257-268. doi: 10.1016/j.neo.2018.11.011. Epub 2019 Jan 25.
6. Clonal architectures and driver mutations in metastatic melanomas. Ding L, etal., PLoS One. 2014 Nov 13;9(11):e111153. doi: 10.1371/journal.pone.0111153. eCollection 2014.
7. NRAS mutations in de novo acute leukemia: prevalence and clinical significance. Dunna NR, etal., Indian J Biochem Biophys. 2014 Jun;51(3):207-10.
8. Metastatic Pattern of Stage IV Colorectal Cancer with High-Frequency Microsatellite Instability as a Prognostic Factor. Fujiyoshi K, etal., Anticancer Res. 2017 Jan;37(1):239-247. doi: 10.21873/anticanres.11313.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. The inv(3)(q21q26)/t(3;3)(q21;q26) is frequently accompanied by alterations of the RUNX1, KRAS and NRAS and NF1 genes and mediates adverse prognosis both in MDS and in AML: a study in 39 cases of MDS or AML. Haferlach C, etal., Leukemia. 2011 May;25(5):874-7. doi: 10.1038/leu.2011.5. Epub 2011 Feb 1.
11. AKT (v-akt murine thymoma viral oncogene homolog 1) and N-Ras (neuroblastoma ras viral oncogene homolog) coactivation in the mouse liver promotes rapid carcinogenesis by way of mTOR (mammalian target of rapamycin complex 1), FOXM1 (forkhead box M1)/SKP2, and c-Myc pathways. Ho C, etal., Hepatology. 2012 Mar;55(3):833-45. doi: 10.1002/hep.24736. Epub 2011 Dec 19.
12. Expression of N-ras gene in human primary hepatocarcinoma. Hu LF, etal., Sci Sin B. 1986 Feb;29(2):181-6.
13. Detection of multiple gene amplifications in glioblastoma multiforme using array-based comparative genomic hybridization. Hui AB, etal., Lab Invest. 2001 May;81(5):717-23.
14. RAS oncogene suppression induces apoptosis followed by more differentiated and less myelosuppressive disease upon relapse of acute myeloid leukemia. Kim WI, etal., Blood. 2009 Jan 29;113(5):1086-96. doi: 10.1182/blood-2008-01-132316. Epub 2008 Oct 24.
15. Mutation analysis of the Ras pathway genes NRAS, HRAS, KRAS and BRAF in glioblastomas. Knobbe CB, etal., Acta Neuropathol. 2004 Dec;108(6):467-70. doi: 10.1007/s00401-004-0929-9. Epub 2004 Oct 28.
16. The ability of endogenous Nras oncogenes to initiate leukemia is codon-dependent. Kong G, etal., Leukemia. 2016 Sep;30(9):1935-8. doi: 10.1038/leu.2016.89. Epub 2016 Apr 25.
17. Cia5d regulates a new fibroblast-like synoviocyte invasion-associated gene expression signature. Laragione T, etal., Arthritis Res Ther. 2008 Aug 15;10(4):R92.
18. Transcriptional activation of H- and N-ras oncogenes in human cervical cancer. Mammas IN, etal., Gynecol Oncol. 2004 Mar;92(3):941-8.
19. Mutation of NRAS but not KRAS significantly reduces myeloma sensitivity to single-agent bortezomib therapy. Mulligan G, etal., Blood. 2014 Jan 30;123(5):632-9. doi: 10.1182/blood-2013-05-504340. Epub 2013 Dec 11.
20. NRAS mutations with low allele burden have independent prognostic significance for patients with lower risk myelodysplastic syndromes. Murphy DM, etal., Leukemia. 2013 Oct;27(10):2077-81. doi: 10.1038/leu.2013.160. Epub 2013 May 27.
21. CD4+ T cells from patients with primary biliary cholangitis show T cell activation and differentially expressed T-cell receptor repertoires. Nakagawa R, etal., Hepatol Res. 2019 Jun;49(6):653-662. doi: 10.1111/hepr.13318. Epub 2019 Feb 26.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. Loss of heterozygosity at the N-ras locus in 7,12-dimethylbenz anthracene-induced rat leukemia. Osaka M, etal., Mol Carcinog. 1997 Apr;18(4):206-12.
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
26. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. MEK1/2 dual-specificity protein kinases: Structure and regulation. Roskoski R Jr Biochem Biophys Res Commun. 2012 Jan 6;417(1):5-10. Epub 2011 Dec 8.
31. An increase in N-Ras expression is associated with development of hormone refractory prostate cancer in a subset of patients. Traynor P, etal., Dis Markers. 2008;24(3):157-65.
32. Diabetes increases both N-ras and ets-1 expression during rat oral oncogenesis resulting in enhanced cell proliferation and metastatic potential. Vairaktaris E, etal., In Vivo. 2007 Jul-Aug;21(4):615-21.
33. Ras gene mutations in 7,12-dimethylbenzanthracene (DMBA)-induced rat sarcomas. Walentinsson A and Levan G, Cancer Lett. 2001 May 10;166(1):47-53.
34. Endogenous oncogenic Nras mutation initiates hematopoietic malignancies in a dose- and cell type-dependent manner. Wang J, etal., Blood. 2011 Jul 14;118(2):368-79. doi: 10.1182/blood-2010-12-326058. Epub 2011 May 17.
35. Deficiency of beta Common Receptor Moderately Attenuates the Progression of Myeloproliferative Neoplasm in NrasG12D/+ Mice. Zhang J, etal., J Biol Chem. 2015 Jul 31;290(31):19093-103. doi: 10.1074/jbc.M115.653154. Epub 2015 Jun 16.
Additional References at PubMed
PMID:1692298   PMID:1970154   PMID:2661017   PMID:2991860   PMID:2998510   PMID:3057505   PMID:3102434   PMID:3276402   PMID:3295562   PMID:3856237   PMID:3887133   PMID:6086315  
PMID:6587382   PMID:6616621   PMID:6705568   PMID:7499408   PMID:7766599   PMID:7789166   PMID:7820549   PMID:7829101   PMID:7972015   PMID:8280380   PMID:8493579   PMID:8607982  
PMID:8665852   PMID:9069260   PMID:9069267   PMID:9269777   PMID:9297626   PMID:9344703   PMID:9368069   PMID:9488663   PMID:9578425   PMID:9674433   PMID:9690470   PMID:9753431  
PMID:10412982   PMID:10490827   PMID:10655059   PMID:10712923   PMID:10783161   PMID:10882715   PMID:10918068   PMID:11136978   PMID:11332726   PMID:11520933   PMID:11524732   PMID:11948427  
PMID:12082607   PMID:12230495   PMID:12393454   PMID:12477932   PMID:12483530   PMID:12637339   PMID:12727991   PMID:12783933   PMID:12808105   PMID:14688017   PMID:14695152   PMID:14737077  
PMID:14961576   PMID:15060167   PMID:15474158   PMID:15489334   PMID:15531466   PMID:15674343   PMID:15688405   PMID:15705808   PMID:15761153   PMID:15766527   PMID:16000296   PMID:16076867  
PMID:16098042   PMID:16135812   PMID:16142319   PMID:16169070   PMID:16344560   PMID:16462768   PMID:16573741   PMID:16737746   PMID:16761621   PMID:16845322   PMID:16847854   PMID:17036375  
PMID:17056636   PMID:17119447   PMID:17297468   PMID:17332249   PMID:17507627   PMID:17517660   PMID:17550846   PMID:17671710   PMID:17712732   PMID:17786355   PMID:17893876   PMID:17900235  
PMID:17910045   PMID:17943694   PMID:17949898   PMID:17960171   PMID:18000091   PMID:18006851   PMID:18008004   PMID:18227705   PMID:18310288   PMID:18316586   PMID:18316589   PMID:18323787  
PMID:18375819   PMID:18450602   PMID:18559876   PMID:18567617   PMID:18615679   PMID:18624398   PMID:18632627   PMID:18641128   PMID:18667611   PMID:18668139   PMID:18701506   PMID:18760455  
PMID:18786395   PMID:18788612   PMID:18814281   PMID:18945298   PMID:18980976   PMID:19037234   PMID:19047918   PMID:19101897   PMID:19190079   PMID:19309322   PMID:19319568   PMID:19322201  
PMID:19351817   PMID:19383313   PMID:19460752   PMID:19487299   PMID:19492075   PMID:19633643   PMID:19705759   PMID:19718661   PMID:19759551   PMID:19765726   PMID:19789336   PMID:19802003  
PMID:19819220   PMID:19833857   PMID:19865112   PMID:19874312   PMID:19913121   PMID:19946888   PMID:19954345   PMID:19966803   PMID:20012784   PMID:20056178   PMID:20080631   PMID:20098682  
PMID:20140953   PMID:20147298   PMID:20150643   PMID:20157749   PMID:20192584   PMID:20237506   PMID:20301303   PMID:20301390   PMID:20371679   PMID:20379614   PMID:20392691   PMID:20458337  
PMID:20520634   PMID:20526288   PMID:20619739   PMID:20628086   PMID:20678218   PMID:20680410   PMID:20703244   PMID:20713885   PMID:20720566   PMID:20726318   PMID:20736745   PMID:20815269  
PMID:20824703   PMID:20860430   PMID:20880116   PMID:20881644   PMID:20975100   PMID:21072204   PMID:21107323   PMID:21131919   PMID:21134978   PMID:21166657   PMID:21168197   PMID:21200020  
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PMID:23233531   PMID:23240926   PMID:23262097   PMID:23303902   PMID:23313659   PMID:23362874   PMID:23376485   PMID:23392294   PMID:23403319   PMID:23423222   PMID:23448684   PMID:23477374  
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PMID:24586049   PMID:24588908   PMID:24590757   PMID:24603591   PMID:24610751   PMID:24666267   PMID:24691006   PMID:24703650   PMID:24710085   PMID:24714776   PMID:24737308   PMID:24746824  
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PMID:26547216   PMID:26547258   PMID:26560143   PMID:26562020   PMID:26562302   PMID:26575115   PMID:26581482   PMID:26597176   PMID:26691448   PMID:26701913   PMID:26799668   PMID:26807515  
PMID:26862952   PMID:26947772   PMID:26973648   PMID:26980032   PMID:26989027   PMID:27034005   PMID:27076591   PMID:27101548   PMID:27111337   PMID:27119512   PMID:27121310   PMID:27191502  
PMID:27240832   PMID:27342126   PMID:27356691   PMID:27382031   PMID:27385790   PMID:27391150   PMID:27433783   PMID:27449293   PMID:27458004   PMID:27488117   PMID:27502397   PMID:27502489  
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PMID:27815357   PMID:27886225   PMID:27900779   PMID:27911734   PMID:27916952   PMID:27936046   PMID:28025078   PMID:28074351   PMID:28091917   PMID:28097440   PMID:28098151   PMID:28100394  
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PMID:28680105   PMID:28703285   PMID:28714107   PMID:28797232   PMID:28822769   PMID:28842324   PMID:28853218   PMID:28859058   PMID:28864536   PMID:28873354   PMID:28947418   PMID:29025887  
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PMID:31549767   PMID:31586073   PMID:31630873   PMID:31638232   PMID:31647501   PMID:31675434   PMID:31697451   PMID:31759987   PMID:31774543   PMID:31804006   PMID:31856410   PMID:31881025  
PMID:31899815   PMID:31980649   PMID:32027256   PMID:32087194   PMID:32089414   PMID:32171651   PMID:32227276   PMID:32296183   PMID:32393580   PMID:32562975   PMID:32587355   PMID:32620824  
PMID:32628708   PMID:32687490   PMID:32699322   PMID:32706759   PMID:32707033   PMID:32732488   PMID:32743766   PMID:32747568   PMID:32775409   PMID:32814053   PMID:32892548   PMID:32990852  
PMID:33053566   PMID:33230298   PMID:33247684   PMID:33325154   PMID:33355187   PMID:33431353   PMID:33444485   PMID:33469841   PMID:33579760   PMID:33620658   PMID:33686722   PMID:33704722  
PMID:33710503   PMID:33744389   PMID:33773991   PMID:33784337   PMID:33956301   PMID:33961700   PMID:33961781   PMID:34002029   PMID:34006870   PMID:34024223   PMID:34110110   PMID:34117033  
PMID:34215617   PMID:34215961   PMID:34230493   PMID:34289358   PMID:34290710   PMID:34407391   PMID:34462871   PMID:34591642   PMID:34686504   PMID:34746975   PMID:34828284   PMID:34913063  
PMID:34948093   PMID:35253629   PMID:35271311   PMID:35339759   PMID:35391614   PMID:35512704   PMID:35544941   PMID:35680020   PMID:35787784   PMID:35831314   PMID:35962610   PMID:35967450  
PMID:36047997   PMID:36168628   PMID:36215168   PMID:36244648   PMID:36258226   PMID:36372672   PMID:36424410   PMID:36591710   PMID:36990254   PMID:37013448   PMID:37083947   PMID:37277698  
PMID:37314216   PMID:37317656   PMID:37317963   PMID:37355486   PMID:37499664   PMID:37526097   PMID:37609425   PMID:37616343   PMID:37628868   PMID:37827155   PMID:37839252   PMID:37953090  
PMID:38031763   PMID:38155379   PMID:38182928   PMID:38254245   PMID:38294692   PMID:38325046   PMID:38467248   PMID:38579072   PMID:38603567   PMID:38711167   PMID:38759471   PMID:38809881  
PMID:38875469   PMID:39112713   PMID:39177514   PMID:39273371   PMID:39436655   PMID:39455841  


Genomics

Comparative Map Data
NRAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381114,704,469 - 114,716,771 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1114,704,469 - 114,716,771 (-)Ensemblhg38GRCh38
GRCh371115,247,090 - 115,259,392 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,051,108 - 115,061,038 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341114,961,626 - 114,971,557NCBI
Celera1113,476,335 - 113,488,757 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1113,105,559 - 113,117,974 (-)NCBIHuRef
CHM1_11115,361,892 - 115,374,317 (-)NCBICHM1_1
T2T-CHM13v2.01114,715,929 - 114,728,216 (-)NCBIT2T-CHM13v2.0
Nras
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393102,965,643 - 102,975,230 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3102,965,601 - 102,975,230 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm383103,058,285 - 103,067,914 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3103,058,285 - 103,067,914 (+)Ensemblmm10GRCm38
MGSCv373102,862,208 - 102,871,837 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv363103,187,290 - 103,197,396 (+)NCBIMGSCv36mm8
Celera3105,263,160 - 105,272,744 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map345.25NCBI
Nras
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82193,271,399 - 193,282,023 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2193,271,430 - 193,278,543 (+)EnsemblGRCr8
mRatBN7.22190,582,885 - 190,593,509 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2190,582,918 - 190,591,626 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2198,180,438 - 198,188,074 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02196,052,865 - 196,060,501 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02190,870,131 - 190,877,767 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02205,553,119 - 205,563,716 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2205,553,163 - 205,560,791 (+)Ensemblrn6Rnor6.0
Rnor_5.02224,983,707 - 224,994,303 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42198,292,650 - 198,300,286 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2183,056,304 - 183,063,940 (+)NCBICelera
RGSC_v3.12198,255,369 - 198,265,062 (+)NCBI
Cytogenetic Map2q34NCBI
Nras
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543518,001,517 - 18,009,103 (-)Ensembl
ChiLan1.0NW_00495543518,001,517 - 18,009,105 (-)NCBIChiLan1.0ChiLan1.0
NRAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21107,366,720 - 107,378,995 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11106,960,899 - 106,973,178 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0187,837,146 - 87,850,013 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11122,890,505 - 122,903,585 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1122,890,505 - 122,903,585 (+)EnsemblpanPan2panpan1.1
NRAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11752,411,733 - 52,418,788 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1752,411,733 - 52,418,788 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1752,062,320 - 52,069,399 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01753,289,080 - 53,296,149 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1753,286,139 - 53,296,201 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11752,323,232 - 52,330,285 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01752,365,409 - 52,372,486 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01752,938,741 - 52,945,813 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Nras
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505814,406,378 - 14,416,046 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493662773,413 - 82,590 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493662773,413 - 82,590 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4105,845,872 - 105,858,227 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.14105,845,913 - 105,853,769 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24116,034,666 - 116,042,522 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NRAS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12018,953,273 - 18,966,002 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2018,953,883 - 18,961,931 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603821,707,389 - 21,720,123 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nras
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477210,358,554 - 10,369,371 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in NRAS
290 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002524.5(NRAS):c.464C>T (p.Ala155Val) single nucleotide variant RASopathy [RCV002527601]|not provided [RCV000521930] Chr1:114708641 [GRCh38]
Chr1:115251262 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) single nucleotide variant Epidermal nevus [RCV000032848]|Noonan syndrome 1 [RCV000208568] Chr1:114716060 [GRCh38]
Chr1:115258681 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|other|not provided
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) single nucleotide variant Acute megakaryoblastic leukemia in down syndrome [RCV001293767]|Autoimmune lymphoproliferative syndrome type 4 [RCV000144962]|Juvenile myelomonocytic leukemia [RCV000014915]|Noonan syndrome 6 [RCV000022690]|RASopathy [RCV005089258]|not provided [RCV000157672] Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) single nucleotide variant Noonan syndrome 1 [RCV000208537]|Noonan syndrome 6 [RCV000014916]|Noonan syndrome [RCV000211835]|RASopathy [RCV000463185] Chr1:114713941 [GRCh38]
Chr1:115256562 [GRCh37]
Chr1:1p13.2
pathogenic|not provided
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) single nucleotide variant Cardiovascular phenotype [RCV004984642]|NRAS-related disorder [RCV003415702]|Noonan syndrome 1 [RCV000208552]|Noonan syndrome 6 [RCV000014917]|RASopathy [RCV001382056]|not provided [RCV000158982] Chr1:114713911 [GRCh38]
Chr1:115256532 [GRCh37]
Chr1:1p13.2
pathogenic|not provided
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) single nucleotide variant Large congenital melanocytic nevus [RCV002476203]|RASopathy [RCV000545519] Chr1:114716136 [GRCh38]
Chr1:115258757 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) single nucleotide variant Acute myeloid leukemia [RCV000438070]|Carcinoma of colon [RCV000014913]|Large congenital melanocytic nevus [RCV000114743]|Linear nevus sebaceous syndrome [RCV005251038]|Noonan syndrome 6 [RCV001781267]|not provided [RCV004767008] Chr1:114716124 [GRCh38]
Chr1:115258745 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|other
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) single nucleotide variant Epidermal nevus [RCV000032847]|Large congenital melanocytic nevus [RCV000114744]|Linear nevus sebaceous syndrome [RCV000148032]|Neurocutaneous melanocytosis [RCV000114745]|Non-small cell lung carcinoma [RCV000037574]|Noonan syndrome 6 [RCV003992155]|Thyroid cancer, nonmedullary, 2 [RCV000014914]|Vascular malformation [RCV005251039]|not provided [RCV000413804] Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|uncertain significance|other|not provided
NRAS:c.181C>A (p.Gln61Lys) single nucleotide variant MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC [RCV000114746]|NEUROCUTANEOUS MELANOSIS, SOMATIC INCLUDED [RCV000114747] Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:1p13.2
other
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome type 4 [RCV003221788]|Cardiovascular phenotype [RCV004018703]|Epidermal nevus [RCV000032849]|Juvenile myelomonocytic leukemia [RCV000144963]|NRAS-related disorder [RCV003415756]|Noonan syndrome 6 [RCV001781333]|Noonan syndrome and Noonan-related syndrome [RCV001813214]|RASopathy [RCV001852659]|not provided [RCV000158980] Chr1:114716126 [GRCh38]
Chr1:115258747 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|other|not provided
NM_002524.5(NRAS):c.291-8G>A single nucleotide variant RASopathy [RCV000862599]|not provided [RCV001707515]|not specified [RCV000037575] Chr1:114709736 [GRCh38]
Chr1:115252357 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) single nucleotide variant Noonan syndrome [RCV000037576]|RASopathy [RCV001377735]|not provided [RCV000158986] Chr1:114716126 [GRCh38]
Chr1:115258747 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.360G>A (p.Leu120=) single nucleotide variant Cardiovascular phenotype [RCV002453281]|Noonan syndrome 6 [RCV001100796]|Noonan syndrome and Noonan-related syndrome [RCV001813240]|RASopathy [RCV001080827]|not provided [RCV000587570]|not specified [RCV000037577] Chr1:114709659 [GRCh38]
Chr1:115252280 [GRCh37]
Chr1:1p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) single nucleotide variant Large congenital melanocytic nevus [RCV000114746]|Neurocutaneous melanocytosis [RCV000144964]|RASopathy [RCV000696329]|Ras Inhibitor response [RCV000626456]|Vascular Tumors Including Pyogenic Granuloma [RCV000662267]|not provided [RCV001092890] Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:115058053 [NCBI36]
Chr1:1p13.2
pathogenic|likely pathogenic|drug response|uncertain significance|other|not provided
NM_002524.5(NRAS):c.504G>C (p.Met168Ile) single nucleotide variant RASopathy [RCV005089604]|not provided [RCV000680367]|not specified [RCV000121741] Chr1:114708601 [GRCh38]
Chr1:115251222 [GRCh37]
Chr1:1p13.2
uncertain significance|not provided
NM_002524.5(NRAS):c.112-8A>G single nucleotide variant NRAS-related disorder [RCV003905211]|Noonan syndrome 6 [RCV001101050]|Noonan syndrome and Noonan-related syndrome [RCV001813388]|RASopathy [RCV001089307]|not provided [RCV000588495]|not specified [RCV000127228] Chr1:114713986 [GRCh38]
Chr1:115256607 [GRCh37]
Chr1:1p13.2
benign|likely benign|uncertain significance
NM_002524.5(NRAS):c.-50A>G single nucleotide variant Noonan syndrome 6 [RCV000377346]|not provided [RCV004710538]|not specified [RCV000127229] Chr1:114716690 [GRCh38]
Chr1:115259311 [GRCh37]
Chr1:1p13.2
benign|likely benign|uncertain significance
NM_002524.5(NRAS):c.503T>A (p.Met168Lys) single nucleotide variant not specified [RCV001293540] Chr1:114708602 [GRCh38]
Chr1:115251223 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1 copy number loss See cases [RCV000139157] Chr1:114499327..114926423 [GRCh38]
Chr1:115041949..115469044 [GRCh37]
Chr1:114843472..115270567 [NCBI36]
Chr1:1p13.2
uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) single nucleotide variant NRAS-related disorder [RCV003945240]|Noonan syndrome 6 [RCV000373742]|Noonan syndrome [RCV001261093]|RASopathy [RCV000654962]|not provided [RCV005229993]|not specified [RCV000155806] Chr1:114708552 [GRCh38]
Chr1:115251173 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) single nucleotide variant Juvenile myelomonocytic leukemia [RCV000158978]|Noonan syndrome 6 [RCV003998247]|Noonan syndrome and Noonan-related syndrome [RCV001813397]|RASopathy [RCV001066799]|not provided [RCV000212761] Chr1:114716127 [GRCh38]
Chr1:115258748 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys) single nucleotide variant Noonan syndrome 6 [RCV005055078]|RASopathy [RCV001850066]|not provided [RCV001823120]|not specified [RCV000151575] Chr1:114709651 [GRCh38]
Chr1:115252272 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.225C>T (p.Gly75=) single nucleotide variant Cardiovascular phenotype [RCV002444638]|NRAS-related disorder [RCV003952766]|Noonan syndrome 6 [RCV000320449]|RASopathy [RCV001086742]|not provided [RCV000157673]|not specified [RCV000154799] Chr1:114713865 [GRCh38]
Chr1:115256486 [GRCh37]
Chr1:1p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002524.5(NRAS):c.159G>A (p.Leu53=) single nucleotide variant Cardiovascular phenotype [RCV004019821]|NRAS-related disorder [RCV003952724]|RASopathy [RCV000534894]|not provided [RCV001594857]|not specified [RCV000151574] Chr1:114713931 [GRCh38]
Chr1:115256552 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) single nucleotide variant Chronic myelogenous leukemia, BCR-ABL1 positive [RCV002291497]|not provided [RCV000158979] Chr1:114716127 [GRCh38]
Chr1:115258748 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) single nucleotide variant Increased nuchal translucency [RCV001526619]|Noonan syndrome 6 [RCV001781335]|not provided [RCV000158985] Chr1:114716127 [GRCh38]
Chr1:115258748 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.562G>A (p.Val188Met) single nucleotide variant RASopathy [RCV005055637]|not provided [RCV000157674] Chr1:114708543 [GRCh38]
Chr1:115251164 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) single nucleotide variant Cardiovascular phenotype [RCV004017274]|Noonan syndrome 6 [RCV002470724]|not provided [RCV000158981] Chr1:114713915 [GRCh38]
Chr1:115256536 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|uncertain significance
NM_002524.5(NRAS):c.325G>C (p.Val109Leu) single nucleotide variant not provided [RCV000158983] Chr1:114709694 [GRCh38]
Chr1:115252315 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.112-1_113dup duplication RASopathy [RCV000158984] Chr1:114713976..114713977 [GRCh38]
Chr1:115256597..115256598 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.334G>T (p.Val112Leu) single nucleotide variant RASopathy [RCV003654179]|not provided [RCV000158987] Chr1:114709685 [GRCh38]
Chr1:115252306 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.442A>G (p.Thr148Ala) single nucleotide variant not provided [RCV000158988] Chr1:114709577 [GRCh38]
Chr1:115252198 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*344A>G single nucleotide variant Noonan syndrome 6 [RCV000259443] Chr1:114707750 [GRCh38]
Chr1:115250371 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) single nucleotide variant Noonan syndrome 6 [RCV000709916]|not provided [RCV002468937]|not specified [RCV000194018] Chr1:114709702 [GRCh38]
Chr1:115252323 [GRCh37]
Chr1:1p13.2
uncertain significance|not provided
NM_002524.5(NRAS):c.*1643G>C single nucleotide variant Noonan syndrome 6 [RCV000285060] Chr1:114706451 [GRCh38]
Chr1:115249072 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) single nucleotide variant Cardiovascular phenotype [RCV002356400]|Noonan syndrome 6 [RCV000262996] Chr1:114709639 [GRCh38]
Chr1:115252260 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) single nucleotide variant Noonan syndrome 6 [RCV003155143]|not provided [RCV000291285] Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) single nucleotide variant Myelodysplastic syndrome progressed to acute myeloid leukemia [RCV000203450]|Noonan syndrome and Noonan-related syndrome [RCV001813426]|RASopathy [RCV001324275]|not provided [RCV000380895] Chr1:114716126 [GRCh38]
Chr1:115258747 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|uncertain significance
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) single nucleotide variant Noonan syndrome 1 [RCV000208553]|RASopathy [RCV004732470]|not provided [RCV000522652] Chr1:114716090 [GRCh38]
Chr1:115258711 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|not provided
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_002524.5(NRAS):c.461A>G (p.Asp154Gly) single nucleotide variant RASopathy [RCV000548898]|not provided [RCV004722924] Chr1:114708644 [GRCh38]
Chr1:115251265 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.290+15A>C single nucleotide variant RASopathy [RCV002064373]|not specified [RCV000600398] Chr1:114713785 [GRCh38]
Chr1:115256406 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*3366G>T single nucleotide variant Noonan syndrome 6 [RCV000278492] Chr1:114704728 [GRCh38]
Chr1:115247349 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.-106G>T single nucleotide variant Noonan syndrome 6 [RCV000285468] Chr1:114716746 [GRCh38]
Chr1:115259367 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2327C>T single nucleotide variant Noonan syndrome 6 [RCV000281427] Chr1:114705767 [GRCh38]
Chr1:115248388 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*2662G>A single nucleotide variant Noonan syndrome 6 [RCV000272399]|not provided [RCV004713502] Chr1:114705432 [GRCh38]
Chr1:115248053 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.*2510_*2515del deletion Noonan syndrome [RCV000277907] Chr1:114705579..114705584 [GRCh38]
Chr1:115248200..115248205 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*2464A>G single nucleotide variant Noonan syndrome 6 [RCV000373515] Chr1:114705630 [GRCh38]
Chr1:115248251 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*2844T>A single nucleotide variant Noonan syndrome 6 [RCV000398306] Chr1:114705250 [GRCh38]
Chr1:115247871 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2965del deletion Noonan syndrome [RCV000300681] Chr1:114705129 [GRCh38]
Chr1:115247750 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*2513T>A single nucleotide variant Noonan syndrome 6 [RCV000316496]|not provided [RCV003409430] Chr1:114705581 [GRCh38]
Chr1:115248202 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*3219C>G single nucleotide variant Noonan syndrome 6 [RCV000335852] Chr1:114704875 [GRCh38]
Chr1:115247496 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*111A>G single nucleotide variant Noonan syndrome 6 [RCV000317051]|not provided [RCV003409431] Chr1:114707983 [GRCh38]
Chr1:115250604 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.4(NRAS):c.-208T>A single nucleotide variant Noonan syndrome [RCV000288966]|not provided [RCV001582914] Chr1:114716848 [GRCh38]
Chr1:115259469 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*2805T>C single nucleotide variant Noonan syndrome 6 [RCV000304039]|not provided [RCV003409429] Chr1:114705289 [GRCh38]
Chr1:115247910 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*3384C>T single nucleotide variant Noonan syndrome 6 [RCV000405052] Chr1:114704710 [GRCh38]
Chr1:115247331 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.*2784T>A single nucleotide variant Noonan syndrome 6 [RCV000361225] Chr1:114705310 [GRCh38]
Chr1:115247931 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*3404T>C single nucleotide variant Noonan syndrome 6 [RCV000292737] Chr1:114704690 [GRCh38]
Chr1:115247311 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2667T>C single nucleotide variant Noonan syndrome 6 [RCV000364455]|not provided [RCV004714647] Chr1:114705427 [GRCh38]
Chr1:115248048 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.*3499C>T single nucleotide variant Noonan syndrome 6 [RCV000386944] Chr1:114704595 [GRCh38]
Chr1:115247216 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*2546C>T single nucleotide variant Noonan syndrome 6 [RCV000388618] Chr1:114705548 [GRCh38]
Chr1:115248169 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*872C>T single nucleotide variant Noonan syndrome 6 [RCV000345781]|not provided [RCV004713503] Chr1:114707222 [GRCh38]
Chr1:115249843 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.*583T>G single nucleotide variant Noonan syndrome 6 [RCV000367629] Chr1:114707511 [GRCh38]
Chr1:115250132 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*740G>A single nucleotide variant Noonan syndrome 6 [RCV000310736] Chr1:114707354 [GRCh38]
Chr1:115249975 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.*346G>A single nucleotide variant Noonan syndrome 6 [RCV000370376]|not provided [RCV004713504] Chr1:114707748 [GRCh38]
Chr1:115250369 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.*416A>C single nucleotide variant Noonan syndrome 6 [RCV000313412]|not provided [RCV004710701] Chr1:114707678 [GRCh38]
Chr1:115250299 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*1062_*1063del deletion Noonan syndrome [RCV000395739] Chr1:114707031..114707032 [GRCh38]
Chr1:115249652..115249653 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*536C>T single nucleotide variant Noonan syndrome 6 [RCV000275482] Chr1:114707558 [GRCh38]
Chr1:115250179 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2714G>T single nucleotide variant Noonan syndrome 6 [RCV000268936] Chr1:114705380 [GRCh38]
Chr1:115248001 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2630G>A single nucleotide variant Noonan syndrome 6 [RCV000329752] Chr1:114705464 [GRCh38]
Chr1:115248085 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.4(NRAS):c.-179G>C single nucleotide variant Noonan syndrome [RCV000380979] Chr1:114716819 [GRCh38]
Chr1:115259440 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.4(NRAS):c.-209A>G single nucleotide variant Noonan syndrome [RCV000346351] Chr1:114716849 [GRCh38]
Chr1:115259470 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.4(NRAS):c.-242G>C single nucleotide variant Noonan syndrome [RCV000403024] Chr1:114716882 [GRCh38]
Chr1:115259503 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*935dup duplication Noonan syndrome [RCV000307322] Chr1:114707158..114707159 [GRCh38]
Chr1:115249779..115249780 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2677A>T single nucleotide variant Noonan syndrome 6 [RCV000307407] Chr1:114705417 [GRCh38]
Chr1:115248038 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*3392T>C single nucleotide variant Noonan syndrome 6 [RCV000352339] Chr1:114704702 [GRCh38]
Chr1:115247323 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2178G>A single nucleotide variant Noonan syndrome 6 [RCV000338787] Chr1:114705916 [GRCh38]
Chr1:115248537 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*3062C>T single nucleotide variant Noonan syndrome 6 [RCV000393269] Chr1:114705032 [GRCh38]
Chr1:115247653 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.4(NRAS):c.-245C>T single nucleotide variant Noonan syndrome [RCV000311439] Chr1:114716885 [GRCh38]
Chr1:115259506 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2860G>A single nucleotide variant Noonan syndrome 6 [RCV000357851] Chr1:114705234 [GRCh38]
Chr1:115247855 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1382G>T single nucleotide variant Noonan syndrome 6 [RCV000341854] Chr1:114706712 [GRCh38]
Chr1:115249333 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1656C>T single nucleotide variant Noonan syndrome 6 [RCV000377148] Chr1:114706438 [GRCh38]
Chr1:115249059 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*774A>G single nucleotide variant Noonan syndrome 6 [RCV000395755] Chr1:114707320 [GRCh38]
Chr1:115249941 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.4(NRAS):c.-132C>T single nucleotide variant Noonan syndrome [RCV000342811] Chr1:114716772 [GRCh38]
Chr1:115259393 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.183A>T (p.Gln61His) single nucleotide variant Noonan syndrome and Noonan-related syndrome [RCV001813470]|not provided [RCV000414646] Chr1:114713907 [GRCh38]
Chr1:115256528 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12
pathogenic
NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) single nucleotide variant Melanoma [RCV000420759] Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2
pathogenic
NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) single nucleotide variant Melanoma [RCV000427189] Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:1p13.2
pathogenic
NM_002524.5(NRAS):c.43+20G>A single nucleotide variant not provided [RCV000424029] Chr1:114708134 [GRCh38]
Chr1:115250755 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.37G>T (p.Gly13Cys) single nucleotide variant Melanoma [RCV000445167] Chr1:114716124 [GRCh38]
Chr1:115258745 [GRCh37]
Chr1:1p13.2
pathogenic
NM_002524.5(NRAS):c.-16T>C single nucleotide variant not provided [RCV000424162] Chr1:114716176 [GRCh38]
Chr1:115258797 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) indel Melanoma [RCV000425830] Chr1:114713907..114713908 [GRCh38]
Chr1:115256528..115256529 [GRCh37]
Chr1:1p13.2
pathogenic
NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg) indel Melanoma [RCV000426087] Chr1:114713908..114713909 [GRCh38]
Chr1:115256529..115256530 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu) indel Melanoma [RCV000443704] Chr1:114713907..114713908 [GRCh38]
Chr1:115256528..115256529 [GRCh37]
Chr1:1p13.2
pathogenic
NM_002524.5(NRAS):c.*5A>G single nucleotide variant not specified [RCV000427906] Chr1:114708192 [GRCh38]
Chr1:115250813 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.37G>A (p.Gly13Ser) single nucleotide variant Neoplasm of stomach [RCV000436341] Chr1:114716124 [GRCh38]
Chr1:115258745 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.52G>A (p.Ala18Thr) single nucleotide variant Melanoma [RCV000435339] Chr1:114716109 [GRCh38]
Chr1:115258730 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.315C>T (p.Asp105=) single nucleotide variant Cardiovascular phenotype [RCV002323599]|RASopathy [RCV002521569]|not provided [RCV000425023] Chr1:114709704 [GRCh38]
Chr1:115252325 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.181C>T (p.Gln61Ter) single nucleotide variant Melanoma [RCV000425052] Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.-30A>G single nucleotide variant not specified [RCV000429327] Chr1:114716670 [GRCh38]
Chr1:115259291 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.450+18G>T single nucleotide variant RASopathy [RCV002061449]|not provided [RCV000422469] Chr1:114709551 [GRCh38]
Chr1:115252172 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) single nucleotide variant Cardiovascular phenotype [RCV004022195] Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) single nucleotide variant RASopathy [RCV002524687] Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|uncertain significance
NM_002524.5(NRAS):c.183A>C (p.Gln61His) single nucleotide variant Acute myeloid leukemia [RCV000436751]|Melanoma [RCV000443672]|Non-small cell lung carcinoma [RCV000426637] Chr1:114713907 [GRCh38]
Chr1:115256528 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.525T>C (p.Asp175=) single nucleotide variant not provided [RCV000433515] Chr1:114708580 [GRCh38]
Chr1:115251201 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.87A>G (p.Val29=) single nucleotide variant Cardiovascular phenotype [RCV004022369]|RASopathy [RCV002062579]|not provided [RCV000440684] Chr1:114716074 [GRCh38]
Chr1:115258695 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.36T>G (p.Gly12=) single nucleotide variant Cardiovascular phenotype [RCV002348169]|NRAS-related disorder [RCV003912648]|Noonan syndrome 6 [RCV001101051]|RASopathy [RCV002062313]|not provided [RCV000427012]|not specified [RCV001778962] Chr1:114716125 [GRCh38]
Chr1:115258746 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.112-3del deletion not specified [RCV000484124] Chr1:114713981 [GRCh38]
Chr1:115256602 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.290+7G>A single nucleotide variant NRAS-related disorder [RCV003925393]|RASopathy [RCV000460147]|not provided [RCV003409649]|not specified [RCV000601392] Chr1:114713793 [GRCh38]
Chr1:115256414 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.250A>G (p.Ile84Val) single nucleotide variant Noonan syndrome 6 [RCV001100797]|RASopathy [RCV001066150]|not provided [RCV000480705] Chr1:114713840 [GRCh38]
Chr1:115256461 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.451-21_451-19del deletion RASopathy [RCV002063703]|not provided [RCV000480713]|not specified [RCV001778974] Chr1:114708673..114708675 [GRCh38]
Chr1:115251294..115251296 [GRCh37]
Chr1:1p13.2
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002524.5(NRAS):c.393C>T (p.His131=) single nucleotide variant RASopathy [RCV000533977]|not provided [RCV001712528] Chr1:114709626 [GRCh38]
Chr1:115252247 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.432C>T (p.Thr144=) single nucleotide variant Cardiovascular phenotype [RCV002331082]|Noonan syndrome and Noonan-related syndrome [RCV001813525]|RASopathy [RCV002064335]|not specified [RCV000603088] Chr1:114709587 [GRCh38]
Chr1:115252208 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.380C>T (p.Thr127Ile) single nucleotide variant RASopathy [RCV000560359] Chr1:114709639 [GRCh38]
Chr1:115252260 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.-46T>A single nucleotide variant not specified [RCV000610987] Chr1:114716686 [GRCh38]
Chr1:115259307 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.434C>T (p.Ser145Leu) single nucleotide variant RASopathy [RCV000654917] Chr1:114709585 [GRCh38]
Chr1:115252206 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
NM_002524.5(NRAS):c.127C>T (p.Gln43Ter) single nucleotide variant not provided [RCV000513258] Chr1:114713963 [GRCh38]
Chr1:115256584 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.147A>C (p.Glu49Asp) single nucleotide variant not provided [RCV000681060] Chr1:114713943 [GRCh38]
Chr1:115256564 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.178G>A (p.Gly60Arg) single nucleotide variant not provided [RCV000681189] Chr1:114713912 [GRCh38]
Chr1:115256533 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.451-334G>A single nucleotide variant not provided [RCV000681339] Chr1:114708988 [GRCh38]
Chr1:115251609 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.291-260C>G single nucleotide variant not provided [RCV000681249] Chr1:114709988 [GRCh38]
Chr1:115252609 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.112-24dup duplication RASopathy [RCV002060861]|not provided [RCV000680633]|not specified [RCV001193081] Chr1:114713997..114713998 [GRCh38]
Chr1:115256618..115256619 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.451-44G>A single nucleotide variant not provided [RCV000680672] Chr1:114708698 [GRCh38]
Chr1:115251319 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.31G>A (p.Ala11Thr) single nucleotide variant Cardiovascular phenotype [RCV004026162]|RASopathy [RCV001042539]|not provided [RCV000680636] Chr1:114716130 [GRCh38]
Chr1:115258751 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.451-200C>T single nucleotide variant not provided [RCV000680726] Chr1:114708854 [GRCh38]
Chr1:115251475 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.565A>G (p.Met189Val) single nucleotide variant not provided [RCV000680640] Chr1:114708540 [GRCh38]
Chr1:115251161 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002524.5(NRAS):c.-17-4A>G single nucleotide variant not provided [RCV001586452] Chr1:114716181 [GRCh38]
Chr1:115258802 [GRCh37]
Chr1:1p13.2
likely benign
NC_000001.11:g.114716959T>C single nucleotide variant not provided [RCV001568102] Chr1:114716959 [GRCh38]
Chr1:115259580 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) single nucleotide variant Anemia [RCV001003789]|Noonan syndrome [RCV001261065] Chr1:114713914 [GRCh38]
Chr1:115256535 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.54A>C (p.Ala18=) single nucleotide variant not provided [RCV000943948] Chr1:114716107 [GRCh38]
Chr1:115258728 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.45G>C (p.Gly15=) single nucleotide variant RASopathy [RCV001405583] Chr1:114716116 [GRCh38]
Chr1:115258737 [GRCh37]
Chr1:1p13.2
likely benign
GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 copy number loss not provided [RCV001005130] Chr1:114024461..116189135 [GRCh37]
Chr1:1p13.2-13.1
likely pathogenic
NM_002524.5(NRAS):c.65A>G (p.Gln22Arg) single nucleotide variant RASopathy [RCV000815786]|not provided [RCV004777892] Chr1:114716096 [GRCh38]
Chr1:115258717 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.320A>C (p.Asp107Ala) single nucleotide variant RASopathy [RCV000807015] Chr1:114709699 [GRCh38]
Chr1:115252320 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.561G>A (p.Val187=) single nucleotide variant RASopathy [RCV000798715] Chr1:114708544 [GRCh38]
Chr1:115251165 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*2816T>C single nucleotide variant Noonan syndrome 6 [RCV001097130] Chr1:114705278 [GRCh38]
Chr1:115247899 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*2811C>A single nucleotide variant Noonan syndrome 6 [RCV001097131] Chr1:114705283 [GRCh38]
Chr1:115247904 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.300T>A (p.Ile100=) single nucleotide variant RASopathy [RCV001456038] Chr1:114709719 [GRCh38]
Chr1:115252340 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.101C>G (p.Pro34Arg) single nucleotide variant not provided [RCV000994077] Chr1:114716060 [GRCh38]
Chr1:115258681 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*3103G>T single nucleotide variant Noonan syndrome 6 [RCV001100880] Chr1:114704991 [GRCh38]
Chr1:115247612 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1629C>G single nucleotide variant Noonan syndrome 6 [RCV001097227] Chr1:114706465 [GRCh38]
Chr1:115249086 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1466A>T single nucleotide variant Noonan syndrome 6 [RCV001097230] Chr1:114706628 [GRCh38]
Chr1:115249249 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.370A>G (p.Thr124Ala) single nucleotide variant RASopathy [RCV001866020]|not provided [RCV001569976] Chr1:114709649 [GRCh38]
Chr1:115252270 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NC_000001.10:g.(?_113456513)_(116311162_?)dup duplication RASopathy [RCV003107709] Chr1:113456513..116311162 [GRCh37]
Chr1:1p13.2-13.1
uncertain significance
NC_000001.11:g.114716978G>T single nucleotide variant not provided [RCV001614124] Chr1:114716978 [GRCh38]
Chr1:115259599 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.291-315A>G single nucleotide variant not provided [RCV001557783] Chr1:114710043 [GRCh38]
Chr1:115252664 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.444C>T (p.Thr148=) single nucleotide variant not provided [RCV000939169] Chr1:114709575 [GRCh38]
Chr1:115252196 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*2226G>C single nucleotide variant Noonan syndrome 6 [RCV001100701] Chr1:114705868 [GRCh38]
Chr1:115248489 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*3341A>T single nucleotide variant Noonan syndrome 6 [RCV001100878] Chr1:114704753 [GRCh38]
Chr1:115247374 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe) single nucleotide variant Noonan syndrome [RCV001249716] Chr1:114713855 [GRCh38]
Chr1:115256476 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.152G>A (p.Cys51Tyr) single nucleotide variant RASopathy [RCV001070491] Chr1:114713938 [GRCh38]
Chr1:115256559 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.425T>C (p.Ile142Thr) single nucleotide variant RASopathy [RCV002771045] Chr1:114709594 [GRCh38]
Chr1:115252215 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.304C>T (p.Arg102Ter) single nucleotide variant not provided [RCV002467166] Chr1:114709715 [GRCh38]
Chr1:115252336 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.-18+156A>C single nucleotide variant not provided [RCV001716053] Chr1:114716502 [GRCh38]
Chr1:115259123 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.450+12C>T single nucleotide variant RASopathy [RCV003539398]|not provided [RCV001699996] Chr1:114709557 [GRCh38]
Chr1:115252178 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*3020A>G single nucleotide variant Noonan syndrome 6 [RCV001100881] Chr1:114705074 [GRCh38]
Chr1:115247695 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2618A>G single nucleotide variant Noonan syndrome 6 [RCV001098880]|not provided [RCV003405303] Chr1:114705476 [GRCh38]
Chr1:115248097 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*1914A>G single nucleotide variant Noonan syndrome 6 [RCV001100968] Chr1:114706180 [GRCh38]
Chr1:115248801 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*651C>T single nucleotide variant Noonan syndrome 6 [RCV001098984] Chr1:114707443 [GRCh38]
Chr1:115250064 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*3362T>C single nucleotide variant Noonan syndrome 6 [RCV001100877] Chr1:114704732 [GRCh38]
Chr1:115247353 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*3306A>G single nucleotide variant Noonan syndrome 6 [RCV001100879] Chr1:114704788 [GRCh38]
Chr1:115247409 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.-18+62A>C single nucleotide variant not provided [RCV001694662] Chr1:114716596 [GRCh38]
Chr1:115259217 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.112-70C>T single nucleotide variant not provided [RCV001612515]|not specified [RCV003399428] Chr1:114714048 [GRCh38]
Chr1:115256669 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.*2767C>T single nucleotide variant Noonan syndrome 6 [RCV001097132] Chr1:114705327 [GRCh38]
Chr1:115247948 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1509A>G single nucleotide variant Noonan syndrome 6 [RCV001097229] Chr1:114706585 [GRCh38]
Chr1:115249206 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1105C>T single nucleotide variant Noonan syndrome 6 [RCV001097231] Chr1:114706989 [GRCh38]
Chr1:115249610 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.203G>C (p.Arg68Thr) single nucleotide variant RASopathy [RCV002560284]|not provided [RCV004720787]|not specified [RCV001201215] Chr1:114713887 [GRCh38]
Chr1:115256508 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.85G>A (p.Val29Ile) single nucleotide variant RASopathy [RCV005093723]|not provided [RCV001171586] Chr1:114716076 [GRCh38]
Chr1:115258697 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2523A>G single nucleotide variant Noonan syndrome 6 [RCV001098882] Chr1:114705571 [GRCh38]
Chr1:115248192 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2589G>A single nucleotide variant Noonan syndrome 6 [RCV001098881] Chr1:114705505 [GRCh38]
Chr1:115248126 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*687A>G single nucleotide variant Noonan syndrome 6 [RCV001098983] Chr1:114707407 [GRCh38]
Chr1:115250028 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.*2412G>A single nucleotide variant Noonan syndrome 6 [RCV001100699] Chr1:114705682 [GRCh38]
Chr1:115248303 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2328G>A single nucleotide variant Noonan syndrome 6 [RCV001100700] Chr1:114705766 [GRCh38]
Chr1:115248387 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*340G>A single nucleotide variant Noonan syndrome 6 [RCV001100795] Chr1:114707754 [GRCh38]
Chr1:115250375 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1974T>C single nucleotide variant Noonan syndrome 6 [RCV001100966] Chr1:114706120 [GRCh38]
Chr1:115248741 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1845T>C single nucleotide variant Noonan syndrome 6 [RCV001100970] Chr1:114706249 [GRCh38]
Chr1:115248870 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*3500G>A single nucleotide variant Noonan syndrome 6 [RCV001100602] Chr1:114704594 [GRCh38]
Chr1:115247215 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*3430T>A single nucleotide variant Noonan syndrome 6 [RCV001100603] Chr1:114704664 [GRCh38]
Chr1:115247285 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*2517A>G single nucleotide variant Noonan syndrome 6 [RCV001100698] Chr1:114705577 [GRCh38]
Chr1:115248198 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*2188C>A single nucleotide variant Noonan syndrome 6 [RCV001100702] Chr1:114705906 [GRCh38]
Chr1:115248527 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1936C>G single nucleotide variant Noonan syndrome 6 [RCV001100967] Chr1:114706158 [GRCh38]
Chr1:115248779 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.*1571A>G single nucleotide variant Noonan syndrome 6 [RCV001097228] Chr1:114706523 [GRCh38]
Chr1:115249144 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.112-6C>G single nucleotide variant Noonan syndrome 6 [RCV001100798]|RASopathy [RCV002558012]|not provided [RCV001566706] Chr1:114713984 [GRCh38]
Chr1:115256605 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.*1887T>C single nucleotide variant Noonan syndrome 6 [RCV001100969] Chr1:114706207 [GRCh38]
Chr1:115248828 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.291-3T>C single nucleotide variant RASopathy [RCV001052664] Chr1:114709731 [GRCh38]
Chr1:115252352 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile) single nucleotide variant Noonan syndrome [RCV001261091] Chr1:114709576 [GRCh38]
Chr1:115252197 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.112-24C>A single nucleotide variant not provided [RCV001662948] Chr1:114714002 [GRCh38]
Chr1:115256623 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys) single nucleotide variant Noonan syndrome 6 [RCV004783939]|Noonan syndrome [RCV001261092] Chr1:114708648 [GRCh38]
Chr1:115251269 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser) single nucleotide variant Noonan syndrome [RCV001261066] Chr1:114713886 [GRCh38]
Chr1:115256507 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.272C>T (p.Ala91Val) single nucleotide variant RASopathy [RCV001300480]|not provided [RCV001664814] Chr1:114713818 [GRCh38]
Chr1:115256439 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.450+7T>C single nucleotide variant RASopathy [RCV001422257] Chr1:114709562 [GRCh38]
Chr1:115252183 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.490C>T (p.Arg164Cys) single nucleotide variant Neurodevelopmental disorder [RCV001374972]|RASopathy [RCV001865869] Chr1:114708615 [GRCh38]
Chr1:115251236 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.5C>T (p.Thr2Ile) single nucleotide variant not specified [RCV001290573] Chr1:114716156 [GRCh38]
Chr1:115258777 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.539_*4+1del deletion RASopathy [RCV001308293] Chr1:114708530..114708566 [GRCh38]
Chr1:115251151..115251187 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
NM_002524.5(NRAS):c.411C>T (p.Tyr137=) single nucleotide variant Cardiovascular phenotype [RCV002322430]|RASopathy [RCV001418271]|not provided [RCV003405653] Chr1:114709608 [GRCh38]
Chr1:115252229 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.531G>A (p.Gly177=) single nucleotide variant RASopathy [RCV001410060] Chr1:114708574 [GRCh38]
Chr1:115251195 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.74A>G (p.Gln25Arg) single nucleotide variant not provided [RCV001592708] Chr1:114716087 [GRCh38]
Chr1:115258708 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.-18+195C>T single nucleotide variant not provided [RCV001687951] Chr1:114716463 [GRCh38]
Chr1:115259084 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) single nucleotide variant Colorectal cancer [RCV002246364]|Noonan syndrome 1 [RCV003151312]|Noonan syndrome [RCV005252061]|Noonan syndrome and Noonan-related syndrome [RCV001813594]|RASopathy [RCV001382057]|not provided [RCV002243172] Chr1:114713917 [GRCh38]
Chr1:115256538 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic
NM_002524.5(NRAS):c.318G>A (p.Ser106=) single nucleotide variant Cardiovascular phenotype [RCV002322428]|RASopathy [RCV001417885] Chr1:114709701 [GRCh38]
Chr1:115252322 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.69A>G (p.Leu23=) single nucleotide variant Cardiovascular phenotype [RCV003160733]|Noonan syndrome and Noonan-related syndrome [RCV001813596]|RASopathy [RCV001432727]|not provided [RCV001550029] Chr1:114716092 [GRCh38]
Chr1:115258713 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.268T>C (p.Phe90Leu) single nucleotide variant Focal-onset seizure [RCV001775214]|not provided [RCV003154193] Chr1:114713822 [GRCh38]
Chr1:115256443 [GRCh37]
Chr1:1p13.2
likely pathogenic|uncertain significance
NM_002524.5(NRAS):c.64C>T (p.Gln22Ter) single nucleotide variant not provided [RCV001763293] Chr1:114716097 [GRCh38]
Chr1:115258718 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.290+15A>G single nucleotide variant RASopathy [RCV003539400]|not specified [RCV001732822] Chr1:114713785 [GRCh38]
Chr1:115256406 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.542G>T (p.Cys181Phe) single nucleotide variant not provided [RCV001763216] Chr1:114708563 [GRCh38]
Chr1:115251184 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.449A>G (p.Gln150Arg) single nucleotide variant Noonan syndrome 6 [RCV001775405] Chr1:114709570 [GRCh38]
Chr1:115252191 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.394G>C (p.Glu132Gln) single nucleotide variant not provided [RCV001774266] Chr1:114709625 [GRCh38]
Chr1:115252246 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.554C>T (p.Pro185Leu) single nucleotide variant not provided [RCV001769109] Chr1:114708551 [GRCh38]
Chr1:115251172 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.274G>A (p.Asp92Asn) single nucleotide variant not provided [RCV001814824] Chr1:114713816 [GRCh38]
Chr1:115256437 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.42T>C (p.Val14=) single nucleotide variant Cardiovascular phenotype [RCV002329765]|Noonan syndrome and Noonan-related syndrome [RCV001813680] Chr1:114716119 [GRCh38]
Chr1:115258740 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.179G>T (p.Gly60Val) single nucleotide variant Noonan syndrome 6 [RCV003992561]|Noonan syndrome and Noonan-related syndrome [RCV001813662] Chr1:114713911 [GRCh38]
Chr1:115256532 [GRCh37]
Chr1:1p13.2
likely pathogenic|uncertain significance
NM_002524.5(NRAS):c.108A>G (p.Ile36Met) single nucleotide variant Noonan syndrome 6 [RCV001822085] Chr1:114716053 [GRCh38]
Chr1:115258674 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.478G>A (p.Val160Ile) single nucleotide variant RASopathy [RCV001863674]|not provided [RCV002243471] Chr1:114708627 [GRCh38]
Chr1:115251248 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.22G>A (p.Val8Met) single nucleotide variant RASopathy [RCV001891891] Chr1:114716139 [GRCh38]
Chr1:115258760 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.331A>G (p.Met111Val) single nucleotide variant RASopathy [RCV001910618] Chr1:114709688 [GRCh38]
Chr1:115252309 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.299T>C (p.Ile100Thr) single nucleotide variant RASopathy [RCV002004631] Chr1:114709720 [GRCh38]
Chr1:115252341 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.140A>G (p.Asp47Gly) single nucleotide variant RASopathy [RCV001892312] Chr1:114713950 [GRCh38]
Chr1:115256571 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2
pathogenic
NM_002524.5(NRAS):c.260G>A (p.Ser87Asn) single nucleotide variant RASopathy [RCV001986088]|not provided [RCV003228044] Chr1:114713830 [GRCh38]
Chr1:115256451 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.297G>T (p.Gln99His) single nucleotide variant RASopathy [RCV001982738] Chr1:114709722 [GRCh38]
Chr1:115252343 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.562G>T (p.Val188Leu) single nucleotide variant RASopathy [RCV002039240] Chr1:114708543 [GRCh38]
Chr1:115251164 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.300T>G (p.Ile100Met) single nucleotide variant RASopathy [RCV001959481] Chr1:114709719 [GRCh38]
Chr1:115252340 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.499C>T (p.Arg167Ter) single nucleotide variant RASopathy [RCV001907357] Chr1:114708606 [GRCh38]
Chr1:115251227 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.273G>A (p.Ala91=) single nucleotide variant RASopathy [RCV002111089]|not specified [RCV003403684] Chr1:114713817 [GRCh38]
Chr1:115256438 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.465T>G (p.Ala155=) single nucleotide variant RASopathy [RCV002091059] Chr1:114708640 [GRCh38]
Chr1:115251261 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.111+10A>G single nucleotide variant RASopathy [RCV002147963] Chr1:114716040 [GRCh38]
Chr1:115258661 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-11T>C single nucleotide variant RASopathy [RCV002111441] Chr1:114708665 [GRCh38]
Chr1:115251286 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.112-14C>T single nucleotide variant RASopathy [RCV002172265] Chr1:114713992 [GRCh38]
Chr1:115256613 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-14T>G single nucleotide variant RASopathy [RCV002079762] Chr1:114708668 [GRCh38]
Chr1:115251289 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-12T>C single nucleotide variant RASopathy [RCV002177693] Chr1:114708666 [GRCh38]
Chr1:115251287 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.111+18C>G single nucleotide variant RASopathy [RCV002202133] Chr1:114716032 [GRCh38]
Chr1:115258653 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-17A>G single nucleotide variant RASopathy [RCV002203489] Chr1:114708671 [GRCh38]
Chr1:115251292 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-10C>T single nucleotide variant NRAS-related disorder [RCV003895873]|RASopathy [RCV002082202] Chr1:114708664 [GRCh38]
Chr1:115251285 [GRCh37]
Chr1:1p13.2
likely benign
NC_000001.10:g.(?_112318699)_(115576848_?)del deletion Hereditary spastic paraplegia 47 [RCV003109541] Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2
pathogenic
NM_002524.5(NRAS):c.371C>T (p.Thr124Ile) single nucleotide variant not provided [RCV003236138] Chr1:114709648 [GRCh38]
Chr1:115252269 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.412G>A (p.Gly138Arg) single nucleotide variant RASopathy [RCV003097729]|See cases [RCV002287734] Chr1:114709607 [GRCh38]
Chr1:115252228 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.430A>G (p.Thr144Ala) single nucleotide variant RASopathy [RCV002297129] Chr1:114709589 [GRCh38]
Chr1:115252210 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1 copy number loss not provided [RCV002473608] Chr1:114833697..115377089 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.107T>C (p.Ile36Thr) single nucleotide variant Cardiovascular phenotype [RCV002417527]|RASopathy [RCV003101066] Chr1:114716054 [GRCh38]
Chr1:115258675 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.166C>T (p.Leu56=) single nucleotide variant Cardiovascular phenotype [RCV002395118]|RASopathy [RCV005097670] Chr1:114713924 [GRCh38]
Chr1:115256545 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.21G>A (p.Val7=) single nucleotide variant Cardiovascular phenotype [RCV002425712] Chr1:114716140 [GRCh38]
Chr1:115258761 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.222A>G (p.Thr74=) single nucleotide variant Cardiovascular phenotype [RCV002428208]|NRAS-related disorder [RCV003896188]|RASopathy [RCV003098737] Chr1:114713868 [GRCh38]
Chr1:115256489 [GRCh37]
Chr1:1p13.2
benign|likely benign
NM_002524.5(NRAS):c.384A>G (p.Lys128=) single nucleotide variant Cardiovascular phenotype [RCV002355467]|not specified [RCV005419438] Chr1:114709635 [GRCh38]
Chr1:115252256 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.180A>G (p.Gly60=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002306249] Chr1:114713910 [GRCh38]
Chr1:115256531 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.252C>T (p.Ile84=) single nucleotide variant Cardiovascular phenotype [RCV002433133] Chr1:114713838 [GRCh38]
Chr1:115256459 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.454G>T (p.Val152Phe) single nucleotide variant RASopathy [RCV002301834] Chr1:114708651 [GRCh38]
Chr1:115251272 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.164T>C (p.Ile55Thr) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002306250] Chr1:114713926 [GRCh38]
Chr1:115256547 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.228A>G (p.Glu76=) single nucleotide variant Cardiovascular phenotype [RCV002446210]|RASopathy [RCV003098777] Chr1:114713862 [GRCh38]
Chr1:115256483 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.564G>C (p.Val188=) single nucleotide variant Cardiovascular phenotype [RCV002345186]|RASopathy [RCV003096826] Chr1:114708541 [GRCh38]
Chr1:115251162 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.325G>A (p.Val109Ile) single nucleotide variant RASopathy [RCV003074614] Chr1:114709694 [GRCh38]
Chr1:115252315 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.84T>C (p.Phe28=) single nucleotide variant RASopathy [RCV002903165] Chr1:114716077 [GRCh38]
Chr1:115258698 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.519C>T (p.Ser173=) single nucleotide variant RASopathy [RCV002785818] Chr1:114708586 [GRCh38]
Chr1:115251207 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.4A>G (p.Thr2Ala) single nucleotide variant RASopathy [RCV003038929] Chr1:114716157 [GRCh38]
Chr1:115258778 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.291-14A>T single nucleotide variant RASopathy [RCV003020437] Chr1:114709742 [GRCh38]
Chr1:115252363 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.305G>A (p.Arg102Gln) single nucleotide variant RASopathy [RCV002619874]|not provided [RCV003128882] Chr1:114709714 [GRCh38]
Chr1:115252335 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.441G>T (p.Lys147Asn) single nucleotide variant RASopathy [RCV002797365] Chr1:114709578 [GRCh38]
Chr1:115252199 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.450G>C (p.Gln150His) single nucleotide variant RASopathy [RCV002976028] Chr1:114709569 [GRCh38]
Chr1:115252190 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.330T>C (p.Pro110=) single nucleotide variant Cardiovascular phenotype [RCV004983293]|RASopathy [RCV003053026] Chr1:114709689 [GRCh38]
Chr1:115252310 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.41T>G (p.Val14Gly) single nucleotide variant RASopathy [RCV002619475] Chr1:114716120 [GRCh38]
Chr1:115258741 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.259A>T (p.Ser87Cys) single nucleotide variant NRAS-related disorder [RCV004731303]|RASopathy [RCV002933042]|not provided [RCV003317628] Chr1:114713831 [GRCh38]
Chr1:115256452 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.112-14del deletion RASopathy [RCV002643563] Chr1:114713992 [GRCh38]
Chr1:115256613 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.290+4C>T single nucleotide variant RASopathy [RCV002933675] Chr1:114713796 [GRCh38]
Chr1:115256417 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.66G>A (p.Gln22=) single nucleotide variant RASopathy [RCV002857572] Chr1:114716095 [GRCh38]
Chr1:115258716 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.544A>T (p.Met182Leu) single nucleotide variant RASopathy [RCV003048040] Chr1:114708561 [GRCh38]
Chr1:115251182 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.524ATG[3] (p.Asp176_Gly177insAsp) microsatellite RASopathy [RCV002627598] Chr1:114708575..114708576 [GRCh38]
Chr1:115251196..115251197 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.410A>G (p.Tyr137Cys) single nucleotide variant Cardiovascular phenotype [RCV004138465] Chr1:114709609 [GRCh38]
Chr1:115252230 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.18GGT[2] (p.Val9del) microsatellite RASopathy [RCV002602524] Chr1:114716135..114716137 [GRCh38]
Chr1:115258756..115258758 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.83T>G (p.Phe28Cys) single nucleotide variant Noonan syndrome 6 [RCV004821373] Chr1:114716078 [GRCh38]
Chr1:115258699 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.111+14G>T single nucleotide variant RASopathy [RCV003069015] Chr1:114716036 [GRCh38]
Chr1:115258657 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-19dup duplication RASopathy [RCV002654558] Chr1:114708672..114708673 [GRCh38]
Chr1:115251293..115251294 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.291-11C>A single nucleotide variant RASopathy [RCV003069555] Chr1:114709739 [GRCh38]
Chr1:115252360 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.450+6G>A single nucleotide variant RASopathy [RCV002589249] Chr1:114709563 [GRCh38]
Chr1:115252184 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.450+6G>T single nucleotide variant RASopathy [RCV002611852] Chr1:114709563 [GRCh38]
Chr1:115252184 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer) duplication Pyogenic granuloma [RCV003458960] Chr1:114713893..114713894 [GRCh38]
Chr1:115256514..115256515 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.4(NRAS):c.-183G>A single nucleotide variant not provided [RCV003406686] Chr1:114716823 [GRCh38]
Chr1:115259444 [GRCh37]
Chr1:1p13.2
likely benign
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1
pathogenic
NM_002524.5(NRAS):c.*2221dup duplication not provided [RCV003406684] Chr1:114705872..114705873 [GRCh38]
Chr1:115248493..115248494 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.*3385G>A single nucleotide variant not provided [RCV003406683] Chr1:114704709 [GRCh38]
Chr1:115247330 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.264G>C (p.Lys88Asn) single nucleotide variant not provided [RCV003406685] Chr1:114713826 [GRCh38]
Chr1:115256447 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.283C>T (p.Leu95Phe) single nucleotide variant NRAS-related disorder [RCV003419062]|RASopathy [RCV003655426] Chr1:114713807 [GRCh38]
Chr1:115256428 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.424A>G (p.Ile142Val) single nucleotide variant RASopathy [RCV003824829] Chr1:114709595 [GRCh38]
Chr1:115252216 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.186A>G (p.Glu62=) single nucleotide variant RASopathy [RCV003654743] Chr1:114713904 [GRCh38]
Chr1:115256525 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.356A>G (p.Asp119Gly) single nucleotide variant RASopathy [RCV003654846] Chr1:114709663 [GRCh38]
Chr1:115252284 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.290+11C>G single nucleotide variant RASopathy [RCV003655830] Chr1:114713789 [GRCh38]
Chr1:115256410 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.291-9C>T single nucleotide variant RASopathy [RCV003839093] Chr1:114709737 [GRCh38]
Chr1:115252358 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.436G>A (p.Ala146Thr) single nucleotide variant RASopathy [RCV003654717] Chr1:114709583 [GRCh38]
Chr1:115252204 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.394G>A (p.Glu132Lys) single nucleotide variant RASopathy [RCV003654911] Chr1:114709625 [GRCh38]
Chr1:115252246 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.555A>G (p.Pro185=) single nucleotide variant RASopathy [RCV003654695] Chr1:114708550 [GRCh38]
Chr1:115251171 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.264G>A (p.Lys88=) single nucleotide variant RASopathy [RCV003654742] Chr1:114713826 [GRCh38]
Chr1:115256447 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-11dup duplication RASopathy [RCV003654901] Chr1:114708664..114708665 [GRCh38]
Chr1:115251285..115251286 [GRCh37]
Chr1:1p13.2
benign
NM_002524.5(NRAS):c.112-7C>T single nucleotide variant RASopathy [RCV003654726]|not provided [RCV004810533] Chr1:114713985 [GRCh38]
Chr1:115256606 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_002524.5(NRAS):c.225C>G (p.Gly75=) single nucleotide variant RASopathy [RCV003654923] Chr1:114713865 [GRCh38]
Chr1:115256486 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.421T>C (p.Phe141Leu) single nucleotide variant RASopathy [RCV003540380] Chr1:114709598 [GRCh38]
Chr1:115252219 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.490C>A (p.Arg164Ser) single nucleotide variant RASopathy [RCV003539698]|not provided [RCV004780577] Chr1:114708615 [GRCh38]
Chr1:115251236 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.450+3A>G single nucleotide variant RASopathy [RCV003540189] Chr1:114709566 [GRCh38]
Chr1:115252187 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.558T>C (p.Cys186=) single nucleotide variant RASopathy [RCV003540398] Chr1:114708547 [GRCh38]
Chr1:115251168 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.21G>T (p.Val7=) single nucleotide variant RASopathy [RCV003864515] Chr1:114716140 [GRCh38]
Chr1:115258761 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.451-17A>C single nucleotide variant RASopathy [RCV003540183] Chr1:114708671 [GRCh38]
Chr1:115251292 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.112-18del deletion RASopathy [RCV003540099] Chr1:114713996 [GRCh38]
Chr1:115256617 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.526G>T (p.Asp176Tyr) single nucleotide variant RASopathy [RCV003540218] Chr1:114708579 [GRCh38]
Chr1:115251200 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.404A>G (p.Lys135Arg) single nucleotide variant RASopathy [RCV003540268] Chr1:114709615 [GRCh38]
Chr1:115252236 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.166C>G (p.Leu56Val) single nucleotide variant RASopathy [RCV003540240] Chr1:114713924 [GRCh38]
Chr1:115256545 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.34_35delinsTT (p.Gly12Phe) indel NRAS-related disorder [RCV003896707] Chr1:114716126..114716127 [GRCh38]
Chr1:115258747..115258748 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_002524.5(NRAS):c.272C>G (p.Ala91Gly) single nucleotide variant Cardiovascular phenotype [RCV004516041] Chr1:114713818 [GRCh38]
Chr1:115256439 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.385C>G (p.Gln129Glu) single nucleotide variant Cardiovascular phenotype [RCV004493430] Chr1:114709634 [GRCh38]
Chr1:115252255 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.203G>T (p.Arg68Ile) single nucleotide variant Noonan syndrome 6 [RCV004698372] Chr1:114713887 [GRCh38]
Chr1:115256508 [GRCh37]
Chr1:1p13.2
pathogenic|conflicting interpretations of pathogenicity
NM_002524.5(NRAS):c.491G>T (p.Arg164Leu) single nucleotide variant Cardiovascular phenotype [RCV004638680] Chr1:114708614 [GRCh38]
Chr1:115251235 [GRCh37]
Chr1:1p13.2
uncertain significance
NC_000001.10:g.(?_114437687)_(115576848_?)del deletion RASopathy [RCV004579033] Chr1:114437687..115576848 [GRCh37]
Chr1:1p13.2
uncertain significance
NC_000001.10:g.(?_115215735)_(115258781_?)dup duplication RASopathy [RCV004579034] Chr1:115215735..115258781 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.119A>G (p.Tyr40Cys) single nucleotide variant not provided [RCV004766376] Chr1:114713971 [GRCh38]
Chr1:115256592 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.423C>G (p.Phe141Leu) single nucleotide variant NRAS-related disorder [RCV004731459] Chr1:114709596 [GRCh38]
Chr1:115252217 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.542G>A (p.Cys181Tyr) single nucleotide variant not provided [RCV004771030] Chr1:114708563 [GRCh38]
Chr1:115251184 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.254A>G (p.Asn85Ser) single nucleotide variant not provided [RCV004775855] Chr1:114713836 [GRCh38]
Chr1:115256457 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.411C>G (p.Tyr137Ter) single nucleotide variant NRAS-related disorder [RCV004730384] Chr1:114709608 [GRCh38]
Chr1:115252229 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.51C>T (p.Ser17=) single nucleotide variant Cardiovascular phenotype [RCV004989069] Chr1:114716110 [GRCh38]
Chr1:115258731 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.463G>A (p.Ala155Thr) single nucleotide variant RASopathy [RCV005172845] Chr1:114708642 [GRCh38]
Chr1:115251263 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.504G>A (p.Met168Ile) single nucleotide variant RASopathy [RCV005064087] Chr1:114708601 [GRCh38]
Chr1:115251222 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.468T>C (p.Phe156=) single nucleotide variant RASopathy [RCV005063767] Chr1:114708637 [GRCh38]
Chr1:115251258 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.88G>A (p.Asp30Asn) single nucleotide variant not specified [RCV005088292] Chr1:114716073 [GRCh38]
Chr1:115258694 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.112-8A>C single nucleotide variant RASopathy [RCV005199588] Chr1:114713986 [GRCh38]
Chr1:115256607 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.286T>C (p.Tyr96His) single nucleotide variant RASopathy [RCV005113652] Chr1:114713804 [GRCh38]
Chr1:115256425 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.112-19T>C single nucleotide variant RASopathy [RCV005192990] Chr1:114713997 [GRCh38]
Chr1:115256618 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.364A>G (p.Thr122Ala) single nucleotide variant RASopathy [RCV005153425] Chr1:114709655 [GRCh38]
Chr1:115252276 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.454G>A (p.Val152Ile) single nucleotide variant RASopathy [RCV005144431] Chr1:114708651 [GRCh38]
Chr1:115251272 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.503T>C (p.Met168Thr) single nucleotide variant not provided [RCV005367911] Chr1:114708602 [GRCh38]
Chr1:115251223 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.112-10A>C single nucleotide variant RASopathy [RCV005199589] Chr1:114713988 [GRCh38]
Chr1:115256609 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.528T>C (p.Asp176=) single nucleotide variant RASopathy [RCV005131779] Chr1:114708577 [GRCh38]
Chr1:115251198 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.511C>T (p.Leu171Phe) single nucleotide variant RASopathy [RCV005152653] Chr1:114708594 [GRCh38]
Chr1:115251215 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.441G>A (p.Lys147=) single nucleotide variant RASopathy [RCV005203308] Chr1:114709578 [GRCh38]
Chr1:115252199 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.290+12A>T single nucleotide variant RASopathy [RCV005072424] Chr1:114713788 [GRCh38]
Chr1:115256409 [GRCh37]
Chr1:1p13.2
likely benign
NM_002524.5(NRAS):c.546G>A (p.Met182Ile) single nucleotide variant RASopathy [RCV005111355] Chr1:114708559 [GRCh38]
Chr1:115251180 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.145G>C (p.Glu49Gln) single nucleotide variant RASopathy [RCV005131186] Chr1:114713945 [GRCh38]
Chr1:115256566 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.554C>A (p.Pro185Gln) single nucleotide variant Cardiovascular phenotype [RCV005379432] Chr1:114708551 [GRCh38]
Chr1:115251172 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_002524.5(NRAS):c.157T>C (p.Leu53=) single nucleotide variant Cardiovascular phenotype [RCV003172591]|RASopathy [RCV003779556] Chr1:114713933 [GRCh38]
Chr1:115256554 [GRCh37]
Chr1:1p13.2
likely benign
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR20Ahsa-miR-20a-5pMirtarbaseexternal_infoWestern blotNon-Functional MTI19110058
MIR124-2hsa-miR-124-3pOncomiRDBexternal_infoNANA22558405
MIRLET7Chsa-let-7c-5pMirtarbaseexternal_infoMicroarray//Northern blot//qRT-PCR//Western blotFunctional MTI15766527
MIR145hsa-miR-145-5pOncomiRDBexternal_infoNANA23201159
MIR145hsa-miR-145-5pOncomiRDBexternal_infoNANA22592534
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoWestern blotFunctional MTI19110058
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI15766527
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoWestern blotFunctional MTI19110058
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI15766527

Predicted Target Of
Summary Value
Count of predictions:1309
Count of miRNA genes:811
Interacting mature miRNAs:919
Transcripts:ENST00000369535
Prediction methods:Microtar, Miranda
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
597326723GWAS1422797_Hbody mass index QTL GWAS1422797 (human)5e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)1114709988114709989Human
597027790GWAS1123864_Hbody mass index QTL GWAS1123864 (human)2e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)1114709988114709989Human

Markers in Region
RH17093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,891,130 - 20,891,328UniSTSGRCh37
GRCh371115,247,168 - 115,247,366UniSTSGRCh37
Build 361115,048,691 - 115,048,889RGDNCBI36
Celera421,347,621 - 21,347,819UniSTS
Celera1113,476,425 - 113,476,623RGD
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map4p15.32UniSTS
HuRef420,239,814 - 20,240,012UniSTS
HuRef1113,105,642 - 113,105,840UniSTS
GDB:177368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,256,467 - 115,256,569UniSTSGRCh37
Build 361115,057,990 - 115,058,092RGDNCBI36
Celera1113,485,709 - 113,485,811RGD
Cytogenetic Map1p13.2UniSTS
HuRef1113,114,926 - 113,115,028UniSTS
GDB:177539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,258,671 - 115,258,779UniSTSGRCh37
Build 361115,060,194 - 115,060,302RGDNCBI36
Celera1113,487,913 - 113,488,021RGD
Cytogenetic Map1p13.2UniSTS
HuRef1113,117,130 - 113,117,238UniSTS
GDB:178391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,256,561 - 115,256,928UniSTSGRCh37
Build 361115,058,084 - 115,058,451RGDNCBI36
Celera1113,485,803 - 113,486,170RGD
Cytogenetic Map1p13.2UniSTS
HuRef1113,115,020 - 113,115,387UniSTS
G20630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37420,891,130 - 20,891,328UniSTSGRCh37
GRCh371115,247,168 - 115,247,366UniSTSGRCh37
Build 361115,048,691 - 115,048,889RGDNCBI36
Celera421,347,621 - 21,347,819UniSTS
Celera1113,476,425 - 113,476,623RGD
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map4p15.32UniSTS
HuRef420,239,814 - 20,240,012UniSTS
HuRef1113,105,642 - 113,105,840UniSTS
PMC28413P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,258,677 - 115,258,791UniSTSGRCh37
Build 361115,060,200 - 115,060,314RGDNCBI36
Celera1113,487,919 - 113,488,033RGD
Cytogenetic Map1p13.2UniSTS
HuRef1113,117,136 - 113,117,250UniSTS
WI-17660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,249,601 - 115,249,726UniSTSGRCh37
Build 361115,051,124 - 115,051,249RGDNCBI36
Celera1113,478,858 - 113,478,983RGD
Cytogenetic Map1p13.2UniSTS
HuRef1113,108,075 - 113,108,200UniSTS
GeneMap99-GB4 RH Map1371.76UniSTS
Whitehead-RH Map1433.8UniSTS
NCBI RH Map1789.8UniSTS
WI-21546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,247,157 - 115,247,412UniSTSGRCh37
Build 361115,048,680 - 115,048,935RGDNCBI36
Celera1113,476,414 - 113,476,669RGD
Cytogenetic Map1p13.2UniSTS
HuRef1113,105,631 - 113,105,886UniSTS
GeneMap99-GB4 RH Map1371.65UniSTS
Whitehead-RH Map1429.9UniSTS
NCBI RH Map1788.3UniSTS
D1S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,250,170 - 115,250,500UniSTSGRCh37
Build 361115,051,693 - 115,052,023RGDNCBI36
Celera1113,479,427 - 113,479,757RGD
Cytogenetic Map1p13.2UniSTS
HuRef1113,108,644 - 113,108,974UniSTS
GeneMap99-GB4 RH Map1372.04UniSTS
Whitehead-RH Map1423.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH64700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,259,668 - 115,259,821UniSTSGRCh37
Build 361115,061,191 - 115,061,344RGDNCBI36
Celera1113,488,910 - 113,489,063RGD
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map1p22UniSTS
HuRef1113,118,127 - 113,118,280UniSTS
GeneMap99-GB4 RH Map1370.92UniSTS
NCBI RH Map1790.3UniSTS
SHGC-32741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,259,580 - 115,259,688UniSTSGRCh37
Build 361115,061,103 - 115,061,211RGDNCBI36
Celera1113,488,822 - 113,488,930RGD
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map1p22UniSTS
HuRef1113,118,039 - 113,118,147UniSTS
TNG Radiation Hybrid Map162827.0UniSTS
GeneMap99-GB4 RH Map1370.75UniSTS
Whitehead-RH Map1427.0UniSTS
NCBI RH Map1788.3UniSTS
RH64875  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF493919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW021410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY428630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY941100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY941101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA007844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD032933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC006861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC094418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK570077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ068324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ230616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ666872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ666873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ666874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ666875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X61282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000369535   ⟹   ENSP00000358548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,704,469 - 114,716,771 (-)Ensembl
RefSeq Acc Id: NM_002524   ⟹   NP_002515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381114,704,469 - 114,716,771 (-)NCBI
GRCh371115,247,085 - 115,259,515 (-)ENTREZGENE
Build 361115,051,108 - 115,061,038 (-)NCBI Archive
HuRef1113,105,559 - 113,117,974 (-)ENTREZGENE
CHM1_11115,361,892 - 115,374,317 (-)NCBI
T2T-CHM13v2.01114,715,929 - 114,728,216 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002515 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36548 (Get FASTA)   NCBI Sequence Viewer  
  AAA36556 (Get FASTA)   NCBI Sequence Viewer  
  AAA60255 (Get FASTA)   NCBI Sequence Viewer  
  AAB29639 (Get FASTA)   NCBI Sequence Viewer  
  AAH05219 (Get FASTA)   NCBI Sequence Viewer  
  AAM12633 (Get FASTA)   NCBI Sequence Viewer  
  AAQ94397 (Get FASTA)   NCBI Sequence Viewer  
  AAV38539 (Get FASTA)   NCBI Sequence Viewer  
  AAV38540 (Get FASTA)   NCBI Sequence Viewer  
  ABY87546 (Get FASTA)   NCBI Sequence Viewer  
  CAA25269 (Get FASTA)   NCBI Sequence Viewer  
  CAA25270 (Get FASTA)   NCBI Sequence Viewer  
  CAA25271 (Get FASTA)   NCBI Sequence Viewer  
  CAA25272 (Get FASTA)   NCBI Sequence Viewer  
  CAA26529 (Get FASTA)   NCBI Sequence Viewer  
  CAA29078 (Get FASTA)   NCBI Sequence Viewer  
  CAA29079 (Get FASTA)   NCBI Sequence Viewer  
  CAA30320 (Get FASTA)   NCBI Sequence Viewer  
  CAA37384 (Get FASTA)   NCBI Sequence Viewer  
  CBV35642 (Get FASTA)   NCBI Sequence Viewer  
  CDL93481 (Get FASTA)   NCBI Sequence Viewer  
  EAW56608 (Get FASTA)   NCBI Sequence Viewer  
  EAW56609 (Get FASTA)   NCBI Sequence Viewer  
  EAW56610 (Get FASTA)   NCBI Sequence Viewer  
  EAW56611 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000358548
  ENSP00000358548.4
GenBank Protein P01111 (Get FASTA)   NCBI Sequence Viewer  
  QDA95518 (Get FASTA)   NCBI Sequence Viewer  
  QDA95519 (Get FASTA)   NCBI Sequence Viewer  
  QDA95520 (Get FASTA)   NCBI Sequence Viewer  
  UBF41790 (Get FASTA)   NCBI Sequence Viewer  
  UJY53500 (Get FASTA)   NCBI Sequence Viewer  
  UJY53501 (Get FASTA)   NCBI Sequence Viewer  
  UJY53502 (Get FASTA)   NCBI Sequence Viewer  
  UJY53503 (Get FASTA)   NCBI Sequence Viewer  
  UJY53504 (Get FASTA)   NCBI Sequence Viewer  
  UJY53505 (Get FASTA)   NCBI Sequence Viewer  
  UJY53506 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002515   ⟸   NM_002524
- UniProtKB: Q15104 (UniProtKB/Swiss-Prot),   Q14971 (UniProtKB/Swiss-Prot),   Q15282 (UniProtKB/Swiss-Prot),   P01111 (UniProtKB/Swiss-Prot),   Q5U091 (UniProtKB/TrEMBL),   A0A024R0K0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000358548   ⟸   ENST00000369535

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01111-F1-model_v2 AlphaFold P01111 1-189 view protein structure

Promoters
RGD ID:6856714
Promoter ID:EPDNEW_H1522
Type:initiation region
Name:NRAS_1
Description:NRAS proto-oncogene, GTPase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381114,716,765 - 114,716,825EPDNEW
RGD ID:6786158
Promoter ID:HG_KWN:4244
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000406761,   NM_002524
Position:
Human AssemblyChrPosition (strand)Source
Build 361115,060,666 - 115,061,166 (-)MPROMDB
RGD ID:6850270
Promoter ID:EP30003
Type:multiple initiation site
Name:HS_NRAS
Description:Cellular-Neuroblastoma ras-like, NRAS gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 162; Mammalian N-ras gene
Tissues & Cell Lines:ubiquitous
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361115,060,897 - 115,060,957EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7989 AgrOrtholog
COSMIC NRAS COSMIC
Ensembl Genes ENSG00000213281 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369535 ENTREZGENE
  ENST00000369535.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000213281 GTEx
HGNC ID HGNC:7989 ENTREZGENE
Human Proteome Map NRAS Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot
  Small_GTP-bd_dom UniProtKB/Swiss-Prot
  Small_GTPase UniProtKB/Swiss-Prot
  Small_GTPase_Ras-type UniProtKB/Swiss-Prot
KEGG Report hsa:4893 UniProtKB/Swiss-Prot
NCBI Gene 4893 ENTREZGENE
OMIM 164790 OMIM
PANTHER PTHR24070 UniProtKB/Swiss-Prot
Pfam Ras UniProtKB/Swiss-Prot
PharmGKB NRAS RGD, PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot
PROSITE RAS UniProtKB/Swiss-Prot
SMART RAB UniProtKB/Swiss-Prot
  RAS UniProtKB/Swiss-Prot
  RHO UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt A0A024R0K0 ENTREZGENE
  P01111 ENTREZGENE
  Q14971 ENTREZGENE
  Q15104 ENTREZGENE
  Q15282 ENTREZGENE
  Q5U091 ENTREZGENE, UniProtKB/TrEMBL
  RASN_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q14971 UniProtKB/Swiss-Prot
  Q15104 UniProtKB/Swiss-Prot
  Q15282 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 NRAS  NRAS proto-oncogene, GTPase    neuroblastoma RAS viral oncogene homolog  Symbol and/or name change 5135510 APPROVED
2016-04-12 NRAS  neuroblastoma RAS viral oncogene homolog    neuroblastoma RAS viral (v-ras) oncogene homolog  Symbol and/or name change 5135510 APPROVED