KRAS KRAS proto-oncogene, GTPase
Gene info
Synonyms
KRAS1
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
Mice homozygous for single-base mutation or null allele have CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for KRAS: BED file
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Selected References
- Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., … Kratz, C. P. (2006). Germline KRAS mutations cause Noonan syndrome. Nature Genetics, 38(3), 331–336. DOI:10.1038/ng1748
- 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. DOI:10.1007/s10038-008-0343-6
- Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cavé, H., Verloes, A., … Matsubara, Y. (2006). Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nature Genetics, 38(3), 294–296. DOI:10.1038/ng1749