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.A561T

c.1681G>A

Surrounding Variants

1 paper

NM_004333.6

p.A561V

c.1682C>T

2 papers

NM_004333.6

p.A561E

c.1682C>A

1 paper

NM_001374244.1

p.T600Fs

c.1799delinsAAFs

2 papers

NM_004333.6

p.Q562*

c.1684C>T

1 paper

NM_004333.6

p.Q559Q

c.1677G>A

1 paper

NM_004333.6

p.I556_Q559delFs

c.1666_1676del11

12 papers

NM_004333.6

p.Q562R

c.1685A>G

1 paper

NM_004333.6

p.Q562P

c.1685A>C

1 paper

NM_004333.6

p.Q559L

c.1676A>T

1 paper

NM_004333.6

p.G563C

c.1687G>T

1 paper

NM_004333.6

p.I556_Q562delFs

c.1668_1686del19

2 papers

NM_004333.6

p.G563V

c.1688G>T