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.E533D

c.1599G>T

Surrounding Variants

17 papers

NM_004333.6

p.G534R

c.1600G>C

2 papers

NM_004333.6

p.G534S

c.1600G>A

1 paper

NM_004333.6

p.E533G

c.1598A>G

1 paper

NM_004333.6

p.E533delFs

c.1597delC

1 paper

NM_004333.6

p.G534V

c.1601G>T

2 papers

NM_004333.6

p.C532_E533ins1

c.1596_1597insTAC

4 papers

NM_004333.6

p.E533K

c.1597G>A

2 papers

NM_004333.6

p.G534D

c.1601G>A

1 paper

NM_004333.6

p.E533fs

c.1597_1598fs

1 paper

NM_004333.6

p.C532W

c.1596T>G

1 paper

NM_004333.6

p.S535A

c.1603T>G

8 papers

NM_004333.6

p.C532Y

c.1595G>A