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.T167P

c.499A>C

Surrounding Variants

3 papers

NM_004333.6

p.T167A

c.499A>G

1 paper

NM_004333.6

p.T167R

c.500C>G

1 paper

NM_004333.6

p.R166K

c.497G>A

1 paper

NM_004333.6

p.V168L

c.502G>T

1 paper

NM_004333.6

p.V168L

c.502G>C

1 paper

NM_004333.6

p.L161_T167del7

c.481_500del21

1 paper

NM_004333.6

p.V168G

c.503T>G

1 paper

NM_004333.6

p.Q165H

c.495G>T

1 paper

NM_004333.6

p.Q165H

c.495G>C

1 paper

NM_004333.6

p.V168V

c.504G>T

1 paper

NM_004333.6

p.V168insFs

c.503dupT

1 paper

NM_004333.6

p.Q165R

c.494A>G