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.D40G

c.119A>G

Surrounding Variants

1 paper

NM_004333.6

p.D40V

c.119A>T

1 paper

NM_004333.6

p.D40Y

c.118G>T

1 paper

NM_004333.6

p.D40N

c.118G>A

1 paper

NM_004333.6

p.D40E

c.120C>G

1 paper

NM_004333.6

p.D40insFs

c.119dupA

1 paper

NM_004333.6

p.D40E

c.120C>A

1 paper

NM_004333.6

p.A39A

c.117G>C

2 papers

NM_004333.6

p.A39A

c.117G>A

1 paper

NM_004333.6

p.P41S

c.121C>T

5 papers

NM_004333.6

p.P41L

c.122C>T

4 papers

NM_004333.6

p.A39V

c.116C>T

2 papers

NM_004333.6

p.P41R

c.122C>G