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

5 papers

NM_004333.6

p.S419Y

c.1256C>A

Surrounding Variants

1 paper

NM_004333.6

p.S419F

c.1256C>T

1 paper

NM_004333.6

p.S419insFs

c.1255dupT

2 papers

NM_004333.6

p.K418delFs

c.1253delT

1 paper

NM_004333.6

p.K418R

c.1253A>G

1 paper

NM_004333.6

p.K418Q

c.1252A>C

2 papers

NM_004333.6

p.Q417H

c.1251G>T

2 papers

NM_004333.6

p.Q417H

c.1251G>C

1 paper

NM_004333.6

p.G421R

c.1261G>C

1 paper

NM_004333.6

p.G421R

c.1261G>A

1 paper

NM_004333.6

p.G421V

c.1262G>T

2 papers

NM_004333.6

p.Q417*

c.1249C>T

2 papers

NM_004333.6

p.Q417E

c.1249C>G