B-Raf Protooncogene, Serine/Threonine Kinase

Alternative Names

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

Length

208,978 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001354609.1:c.1798G>A	Lebanon	NC_000007.14:g.140753337C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Thyroid Carcinoma, Papillary	NG_007873.3:g.176428G>A; NM_001354609.1:c.1798G>A; NP_001341538.1:p.Val600Met	121913378	44816
NM_001354609.1:c.1799T>A	Lebanon	NC_000007.14:g.140753336A>T	Drug Response, Likely Pathogenic, Pathogenic	Likely Pathogenic	Thyroid Carcinoma, Papillary	NG_007873.3:g.176429T>A; NM_001354609.1:c.1799T>A; NP_001341538.1:p.Val600Glu	113488022	376288
NM_004333.6:c.138+12521G>A	United Arab Emirates	NC_000007.14:g.140912045C>T		Association	Type 2 Diabetes Mellitus	NG_007873.3:g.17720G>A; NM_004333.6:c.138+12521G>A; NP_004324.2:p.?	9648715
NM_004333.6:c.1798delinsTACA	Lebanon	chr7:140753337			Lung Cancer	NG_007873.3:g.176428delinsTACA; NM_004333.6:c.1798delinsTACA; NP_004324.2:p.Val600TyrMet
NM_004333.6:c.1914T>G	United Arab Emirates	NC_000007.14:g.140749365A>C	Pathogenic	Pathogenic	Cardiofaciocutaneous Syndrome 1	NG_007873.3:g.180400T>G; NM_004333.6:c.1914T>G ; NP_004324.2:p.Asp638Glu	180177042	162797

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRAF https://medlineplus.gov/genetics/gene/braf/

Contributors

Asha Deepthi: 23.09.2021
Asha Deepthi: 30.06.2020
Pratibha Nair: 04.05.2020
Sami Bizzari: 10.12.2017

Edit History

Asha Deepthi: 23.09.2021
Pratibha Nair: 09.05.2021
Asha Deepthi: 30.06.2020
Pratibha Nair: 04.05.2020
Pratibha Nair: 18.12.2017

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