Gene Accession

P15056

Gene Alias

Protein names Recommended name Serine/threonine-protein kinase B-raf Curated EC number EC:2.7.11.1 2 Publications (UniProtKB | ENZYME | Rhea) Alternative names Proto-oncogene B-Raf p94 v-Raf murine sarcoma viral oncogene homolog B1 Gene names Name BRAF Imported Synonyms BRAF1, RAFB1

Background

BRAF G469A is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469A results in increased Braf kinase activity and downstream activation of Erk, and is transforming in cell culture (PMID: 19010912, PMID: 12068308, PMID: 29533785). The most common BRAF variant, V600E, constitutively activates the kinase, and causes cell proliferation in the absence of growth factors that would normally be required. The V600E variant is detected in approximately 50% of melanomas. The FDA-approved drug label for vemurafenib states that the presence of BRAF V600E mutation in tumor specimens should be confirmed, using an FDA-approved test, before starting treatment with vemurafenib.