B-Raf Protooncogene, Serine/Threonine Kinase

Alternative Names

  • BRAF
  • V-RAF Murine Sarcoma Viral Oncogene Homolog B1
  • Oncogene BRAF
  • BRAF1
  • RAFB1
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OMIM Number

164757

NCBI Gene ID

673

Uniprot ID

P15056

Length

208,978 bases

No. of Exons

23

No. of isoforms

1

Protein Name

Serine/threonine-protein kinase B-raf

Molecular Mass

84437 Da

Amino Acid Count

766

Genomic Location

chr7:140,715,951-140,924,928

Gene Map Locus
7q34

Description

BRAF is a proto-oncogene that encodes serine/threonine-protein kinase B-raf (p94), which is a member of the RAF family of serine/threonine protein kinases. p94 regulates the RAS/MAPK signaling pathway and plays a critical role in cell division, differentiation, migration, and apoptosis.

Mutations in BRAF is associated with cardiofaciocutaneous syndrome, Noonan syndrome, and Costello syndrome. Onset of BRAF dysregulation in later stages of life is associated with multiple cancers including malignant melanoma, thyroid carcinoma, colorectal cancer, non-Hodgkin lymphoma, hairy cell leukemia, lung adenocarcinoma, and non-small cell lung cancer.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001354609.1:c.1798G>ALebanonNC_000007.14:g.140753337C>TLikely Pathogenic, PathogenicLikely PathogenicThyroid Carcinoma, PapillaryNG_007873.3:g.176428G>A; NM_001354609.1:c.1798G>A; NP_001341538.1:p.Val600Met12191337844816
NM_001354609.1:c.1799T>ALebanonNC_000007.14:g.140753336A>TDrug Response, Likely Pathogenic, PathogenicLikely PathogenicThyroid Carcinoma, PapillaryNG_007873.3:g.176429T>A; NM_001354609.1:c.1799T>A; NP_001341538.1:p.Val600Glu113488022376288
NM_004333.6:c.138+12521G>AUnited Arab EmiratesNC_000007.14:g.140912045C>TAssociationType 2 Diabetes MellitusNG_007873.3:g.17720G>A; NM_004333.6:c.138+12521G>A; NP_004324.2:p.?9648715
NM_004333.6:c.1798delinsTACALebanonchr7:140753337Lung CancerNG_007873.3:g.176428delinsTACA; NM_004333.6:c.1798delinsTACA; NP_004324.2:p.Val600TyrMet
NM_004333.6:c.1914T>G United Arab EmiratesNC_000007.14:g.140749365A>CPathogenicPathogenicCardiofaciocutaneous Syndrome 1NG_007873.3:g.180400T>G; NM_004333.6:c.1914T>G ; NP_004324.2:p.Asp638Glu180177042162797
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