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.T119T

c.357C>T

Surrounding Variants

1 paper

NM_004333.6

p.V120F

c.358G>T

5 papers

NM_004333.6

p.V120I

c.358G>A

2 papers

NM_004333.6

p.T119I

c.356C>T

10 papers

NM_004333.6

p.T119S

c.356C>G

1 paper

NM_004333.6

p.V120G

c.359T>G

3 papers

NM_004333.6

p.V120A

c.359T>C

9 papers

NM_004333.6

p.T119S

c.355A>T

1 paper

NM_004333.6

p.V120V

c.360T>A

1 paper

NM_004333.6

p.T121A

c.361A>G

1 paper

NM_004333.6

p.D118A

c.353A>C

1 paper

NM_004333.6

p.D118Y

c.352G>T

1 paper

NM_004333.6

p.D118H

c.352G>C