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.Q270delFs

c.808_809delTG

Surrounding Variants

4 papers

NM_004333.6

p.Q270H

c.810G>C

3 papers

NM_004333.6

p.Q270Q

c.810G>A

4 papers

NM_004333.6

p.R271C

c.811C>T

1 paper

NM_004333.6

p.R271S

c.811C>A

7 papers

NM_004333.6

p.R271H

c.812G>A

1 paper

NM_004333.6

p.Q270_R271insC

c.808_812ins3

1 paper

NM_004333.6

p.C272G

c.814T>G

1 paper

NM_004333.6

p.H269R

c.806A>G

1 paper

NM_004333.6

p.H269P

c.806A>C

2 papers

NM_004333.6

p.H269Y

c.805C>T

1 paper

NM_004333.6

p.F268insFs

c.802_803insT

1 paper

NM_004333.6

p.F268L

c.804T>A