BRAF B-Raf proto-oncogene, serine/threonine kinase

Gene info



Previous symbol


External ID

HGNC: 1097
Entrez Gene: 673
Ensembl: ENSG00000157764
UCSC: uc003vwc.5
OMIM: 164757
UniProtKB: P15056

Disease info

CHD Phenotype

  • Pulmonary stenosis
  • Mitral valve anomaly
  • Atrial septal defect
  • Bicuspid aortic valve

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

Homozygous null mouse has CHD


Variant info


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 BRAF: BED file

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Selected References

  1. Ezquieta, B., Santomé, J. L., Carcavilla, A., Guillén-Navarro, E., Pérez-Aytés, A., Sánchez del Pozo, J., … Galbis, L. (2012). Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía. Revista Española de Cardiología, 65(5), 447–455. DOI:10.1016/j.recesp.2011.12.016 PMID:22465605
  2. Şimşek-Kiper, P., Alanay, Y., Gülhan, B., Lissewski, C., Türkyılmaz, D., Alehan, D., … Boduroğlu, K. (2012). Clinical and molecular analysis of RASopathies in a group of Turkish patients. Clinical Genetics, 83(2), 181–186. DOI:10.1111/j.1399-0004.2012.01875.x PMID:22420426
  3. Narumi, Y., Aoki, Y., Niihori, T., Neri, G., Cavé, H., Verloes, A., … Matsubara, Y. (2007). Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome. American Journal of Medical Genetics Part A, 143A(8), 799–807. DOI:10.1002/ajmg.a.31658 PMID:17366577
  4. 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 PMID:16474404
  5. Rodriguez-Viciana, P. (2006). Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome. Science, 311(5765), 1287–1290. DOI:10.1126/science.1124642 PMID:16439621