BRAF, Official Symbol BRAFprovided by HGNC Official Full Name B-Raf proto-oncogene, serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:1097 See related Ensembl:ENSG00000157764 MIM:164757; AllianceGenome:HGNC:1097 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NS7; B-raf; BRAF1; RAFB1; B-RAF1; BRAF-1 Summary This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in testis (RPKM 6.6), brain (RPKM 5.3) and 25 other tissues See more Orthologs mouse all