KRAS KRAS proto-oncogene, GTPase

Gene info

Synonyms

None

Previous symbol

KRAS2

External ID

HGNC: 6407
Entrez Gene: 3845
Ensembl: ENSG00000133703
UCSC: uc001rgp.3
OMIM: 190070
UniProtKB: P01116

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonic stenosis
  • Dysplastic tricuspid valve
  • Dysplastic mitral valve

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for single-base mutation or null allele have CHD

MGI ID

96680

Variant info

Clinvar

KRAS

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

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Selected References

  1. Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., Nguyen, H., West, B., Zhang, K. Y. J., Sistermans, E., Rauch, A., Niemeyer, C. M., Shannon, K., & Kratz, C. P. (2006). Germline KRAS mutations cause Noonan syndrome. Nature Genetics, 38(3), 331–336. https://doi.org/10.1038/ng1748 DOI:10.1038/ng1748 PMID:16474405
  2. Ko, J. M., Kim, J.-M., Kim, G.-H., & Yoo, H.-W. (2008). PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome. Journal of Human Genetics, 53(11–12), 999–1006. https://doi.org/10.1007/s10038-008-0343-6 DOI:10.1007/s10038-008-0343-6 PMID:19020799
  3. Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cavé, H., Verloes, A., Okamoto, N., Hennekam, R. C. M., Gillessen-Kaesbach, G., Wieczorek, D., Kavamura, M. I., Kurosawa, K., Ohashi, H., Wilson, L., Heron, D., Bonneau, D., Corona, G., Kaname, T., Naritomi, K., … Matsubara, Y. (2006). Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nature Genetics, 38(3), 294–296. https://doi.org/10.1038/ng1749 DOI:10.1038/ng1749 PMID:16474404