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.H60Y

c.178C>T

Surrounding Variants

1 paper

NM_004333.6

p.H60R

c.179A>G

1 paper

NM_004333.6

p.H60P

c.179A>C

2 papers

NM_004333.6

p.H60_I61delins

c.180_181delinsCA

5 papers

NM_004333.6

p.H60_I61delins

c.180_181delinsAA

1 paper

NM_004333.6

p.K55_H60del0

c.165_179del15

1 paper

NM_004333.6

p.E59G

c.176A>G

1 paper

NM_004333.6

p.E59delFs

c.175delC

1 paper

NM_004333.6

p.E59Q

c.175G>C

6 papers

NM_004333.6

p.E59K

c.175G>A

1 paper

NM_004333.6

p.M53_Q58del0

c.159_173del15

1 paper

NM_004333.6

p.I61delins

c.181_182delinsTT

3 papers

NM_004333.6

p.I61V

c.181A>G