NRAS NRAS proto-oncogene, GTPase

Gene info

Synonyms

N-ras

Previous symbol

None

External ID

HGNC: 7989
Entrez Gene: 4893
Ensembl: ENSG00000213281
UCSC: uc009wgu.4
OMIM: 164790
UniProtKB: P01111

Disease info

Disease

CHD Phenotype

  • Pulmonary stenosis
  • Mitral valve dysplasia

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for NRAS: BED file

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Selected References

  1. Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., … Zenker, M. (2009). A restricted spectrum of NRAS mutations causes Noonan syndrome. Nature Genetics, 42(1), 27–29. DOI:10.1038/ng.497 PMID:19966803
  2. Kraoua, L., Journel, H., Bonnet, P., Amiel, J., Pouvreau, N., Baumann, C., … Cavé, H. (2012). ConstitutionalNRASmutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. American Journal of Medical Genetics Part A, 158A(10), 2407–2411. DOI:10.1002/ajmg.a.35513 PMID:22887781