BRAF

B-Raf proto-oncogene, serine/threonine kinase

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]

Known Variants1,005 total

rsidPosition (GRCh37)AllelesClassClinVar
rs767497917:140,426,170G/A—likely benign
rs1141056857:140,434,010C/T—benign
rs1848040217:140,434,181A/G—uncertain significance
rs17962086967:140,434,194T/C—uncertain significance
rs15859299947:140,434,254T/C—uncertain significance
rs13177711587:140,434,273C/G—uncertain significance
rs5398608767:140,434,286G/A—likely benign
rs7275029037:140,434,390A/G—likely benign
rs7466804907:140,434,394G/A—uncertain significance
rs13170517377:140,434,402G/A—uncertain significance
rs12173091347:140,434,405C/G—uncertain significance
rs1394205577:140,434,407G/A—uncertain significance
rs21308674437:140,434,408G/A—uncertain significance
rs7758899227:140,434,413G/A—uncertain significance
rs13051190937:140,434,419T/C—uncertain significance
rs17962262907:140,434,421T/A—likely benign
rs15859309037:140,434,422C/T—likely pathogenic
rs12707224817:140,434,427T/A—likely benign
rs7633400347:140,434,433G/C—uncertain significance
rs25358940457:140,434,435T/C—uncertain significance
rs25358941577:140,434,445T/C—likely benign
rs560465467:140,434,463T/C—benign
rs7676718997:140,434,467C/G—uncertain significance
rs3975169017:140,434,469A/G—likely benign
rs10575206657:140,434,474C/T—conflicting classifications of pathogenicity
rs25358945857:140,434,485A/C—uncertain significance
rs21308685647:140,434,493C/T—likely benign
rs14361931217:140,434,494C/T—uncertain significance
rs21308686027:140,434,495G/A—uncertain significance
rs1425924807:140,434,502G/C—conflicting classifications of pathogenicity
rs7581341747:140,434,503G/A—uncertain significance
rs15629311077:140,434,507G/A—conflicting classifications of pathogenicity
rs15859314467:140,434,508T/C—likely benign
rs21308689567:140,434,522G/A—uncertain significance
rs21308691777:140,434,537A/C—uncertain significance
rs9156989497:140,434,538T/C—likely benign
rs17962369157:140,434,541G/A—likely benign
rs3685288677:140,434,542C/T—uncertain significance
rs3975074877:140,434,543G/Amissense variantuncertain significance
rs15543880247:140,434,556A/G—likely benign
rs5559764527:140,434,558T/C—uncertain significance
rs3771657117:140,434,562G/A—likely benign
rs7275029047:140,434,563G/Amissense variantuncertain significance
rs14815622687:140,434,564C/T—conflicting classifications of pathogenicity
rs21308696237:140,434,565G/A—likely benign
rs9561435587:140,434,574C/A—conflicting classifications of pathogenicity
rs1513066337:140,434,575A/G—likely benign
rs3975169007:140,434,576A/T—conflicting classifications of pathogenicity
rs3975168987:140,434,580A/G—likely benign
rs14772377107:140,434,583A/G—likely benign
rs7635388927:140,434,585A/G—likely benign
rs3687210217:140,434,586G/A—likely benign
rs7693510987:140,434,587A/G—likely benign
rs12807937877:140,434,590A/G—likely benign
rs2022352027:140,434,596A/G—benign
rs7506423457:140,434,604A/G—benign
rs558066597:140,434,620A/G—benign
rs716459947:140,434,780T/C—likely benign
rs716459937:140,434,845T/C—benign
rs616465567:140,434,850A/G—likely benign
rs716459927:140,439,315T/G—benign
rs581940617:140,439,329G/A—benign
rs716459917:140,439,406T/C—likely benign
rs17967576197:140,439,593G/A—likely benign
rs7692630157:140,439,601C/T—likely benign
rs13383594527:140,439,603T/C—likely benign
rs3718577587:140,439,605T/C—conflicting classifications of pathogenicity
rs7723303927:140,439,608T/C—uncertain significance
rs3719761027:140,439,609T/C—benign
rs3975074867:140,439,613T/Cmissense variantpathogenic
rs15543898287:140,439,614G/C—pathogenic
rs21308992967:140,439,630C/T—likely benign
rs8860412577:140,439,638T/C—uncertain significance
rs21308995707:140,439,652C/T—uncertain significance
rs21308996117:140,439,655T/C—uncertain significance
rs3751743707:140,439,657T/C—likely benign
rs7666923317:140,439,661A/G—uncertain significance
rs557153597:140,439,664A/G—uncertain significance
rs21308998477:140,439,669C/T—likely benign
rs10285497817:140,439,674T/C—uncertain significance
rs15543898477:140,439,675G/A—likely benign
rs21309001967:140,439,692T/G—uncertain significance
rs17967640117:140,439,694C/T—uncertain significance
rs7766649827:140,439,695G/A—uncertain significance
rs17967648007:140,439,700T/C—uncertain significance
rs8860412607:140,439,710C/T—uncertain significance
rs25359251307:140,439,711T/C—likely benign
rs15543898607:140,439,713G/A—uncertain significance
rs21309006287:140,439,719G/T—uncertain significance
rs7596645277:140,439,720G/A—likely benign
rs14286961727:140,439,724C/A—uncertain significance
rs3975074857:140,439,727C/Tmissense variant—
rs2017939517:140,439,729T/A—likely benign
rs21309009367:140,439,734C/T—uncertain significance
rs21309009607:140,439,735C/G—uncertain significance
rs21309010507:140,439,744T/C—uncertain significance
rs21309010827:140,439,746T/C—uncertain significance
rs25359258057:140,439,753A/C—likely benign
rs7671997887:140,439,754G/A—likely benign
rs9714511547:140,439,755A/C—likely benign

Showing 100 of 1,005 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.