BRAF B-Raf proto-oncogene, serine/threonine kinase
Gene ID: 673, updated on 10-Dec-2024Gene type: protein coding
Also known as: NS7; B-raf; BRAF1; RAFB1; B-RAF1; BRAF-1
- See all available tests in GTR for this gene
- Go to complete Gene record for BRAF
- Go to Variation Viewer for BRAF variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cardiofaciocutaneous syndrome 1 | See labs |
| Cetuximab response MedGen: CN077967GeneReviews: Not available | See labs |
| Colorectal cancer | See labs |
| Dabrafenib response MedGen: CN239586GeneReviews: Not available | See labs |
| Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. GeneReviews: Not available | |
| LEOPARD syndrome 3 | See labs |
| Lung cancer | See labs |
| Melanoma, cutaneous malignant, susceptibility to, 1 | See labs |
| Noonan syndrome 1 | See labs |
| Noonan syndrome 7 | See labs |
| Panitumumab response MedGen: CN077999GeneReviews: Not available | See labs |
| Vemurafenib response MedGen: CN239577GeneReviews: Not available | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2014-08-04) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2014-08-04) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 7q34
- Sequence:
- Chromosome: 7; NC_000007.14 (140713328..140924929, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BRAF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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