Varaico: Literature-Extracted Genetic Variants

BRAF

18,221 papers

RefSeq 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, ...

Pfam Domains

RBDaa 156–227UCSCRaf-like Ras-binding domain

C1_1aa 235–282UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PK_Tyr_Ser-Thraa 497–754UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

B-Raf proto-oncogene, serine/threonine kinase

HGNC Alias Symbols

BRAF1; BRAF-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

19 papers

NM_004333.6

p.L505F

c.1513C>T

Surrounding Variants

1 paper

NM_004333.6

p.V502_G503ins0

c.1504_1509dup6

46 papers

NM_004333.6

p.L505H

c.1514T>A

1 paper

NM_004333.6

p.L505delins

c.1515delinsTGAGTACCTGAGT

3 papers

NM_004333.6

p.V504I

c.1510G>A

1 paper

NM_004333.6

p.R506ins3

c.1516_1517ins9

1 paper

NM_004333.6

p.R506K

c.1517G>A

4 papers

NM_004333.6

p.G503V

c.1508G>T

1 paper

NM_004333.6

p.R506delins

c.1517delinsGAGTACTCAG

1 paper

NM_004333.6

p.G503A

c.1508G>C

3 papers

NM_004333.6

p.G503E

c.1508G>A

1 paper

NM_004333.6

p.R506Splc

c.1517+2T>A

4 papers

NM_004333.6

p.G503R

c.1507G>C