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

1 paper

NM_004333.6

p.Y78N

c.232T>A

Surrounding Variants

1 paper

NM_004333.6

p.Y78fs

c.232_233fs

2 papers

NM_004333.6

p.Y78F

c.233A>T

2 papers

NM_004333.6

p.Y78C

c.233A>G

1 paper

NM_004333.6

p.Y78S

c.233A>C

2 papers

NM_004333.6

p.Y78insFs

c.233_234insT

1 paper

NM_004333.6

p.I77K

c.230T>A

1 paper

NM_004333.6

p.S76delFs

c.228delT

1 paper

NM_004333.6

p.Y78insFs

c.234dupT

2 papers

NM_004333.6

p.L79M

c.235C>A

1 paper

NM_004333.6

p.I77V

c.229A>G

2 papers

NM_004333.6

p.L79P

c.236T>C

1 paper

NM_004333.6

p.L79Q

c.236T>A