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

Gene ID: 673, updated on 23-Jan-2022
Gene type: protein coding
Also known as: NS7; B-raf; BRAF1; RAFB1; B-RAF1

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

DescriptionTests
Cardiofaciocutaneous syndrome 1See labs
Cetuximab response
MedGen: CN077967GeneReviews: Not available
See labs
Cutaneous malignant melanoma 1
MedGen: C1835047OMIM: 155600GeneReviews: Not available
See labs
Dabrafenib response
MedGen: CN239586GeneReviews: Not available
not available
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
GeneReviews: Not available
LEOPARD syndrome 3See labs
Lung cancer
MedGen: C0242379OMIM: 211980GeneReviews: Not available
See labs
Malignant Colorectal Neoplasm
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs
Noonan syndrome 1
MedGen: C4551602OMIM: 163950GeneReviews: Noonan Syndrome
See labs
Noonan syndrome 7
MedGen: C3150970OMIM: 613706GeneReviews: Noonan Syndrome
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 Page
Haploinsufficency

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:
23

Links

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