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

2 papers

NM_004333.6

p.R158G

c.472A>G

Surrounding Variants

2 papers

NM_004333.6

p.R158*

c.472A>T

1 paper

NM_004333.6

p.R158Fs

c.472delinsTTFs

1 paper

NM_004333.6

p.V157fs

c.469_470fs

1 paper

NM_004333.6

p.I156_V157del1

c.467_469delCGA

3 papers

NM_004333.6

p.R158K

c.473G>A

1 paper

NM_004333.6

p.V157G

c.470T>G

2 papers

NM_004333.6

p.V157A

c.470T>C

5 papers

NM_004333.6

p.V157D

c.470T>A

1 paper

NM_004333.6

p.R158S

c.474A>T

1 paper

NM_004333.6

p.R158S

c.474A>C

1 paper

NM_004333.6

p.R158fs

c.472_473fs

1 paper

NM_004333.6

p.I156_R158delFs

c.467_473del7