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.P422L

c.1265C>T

Surrounding Variants

1 paper

NM_004333.6

p.P422T

c.1264C>A

1 paper

NM_004333.6

p.G421V

c.1262G>T

1 paper

NM_004333.6

p.Q423L

c.1268A>T

1 paper

NM_004333.6

p.Q423insFs

c.1268_1269insG

1 paper

NM_004333.6

p.G421R

c.1261G>C

21 papers

NM_004333.6

p.Q423Q

c.1269G>A

1 paper

NM_004333.6

p.G421R

c.1261G>A

3 papers

NM_004333.6

p.R424*

c.1270C>T

2 papers

NM_004333.6

p.R424L

c.1271G>T

2 papers

NM_004333.6

p.R424Q

c.1271G>A

1 paper

NM_004333.6

p.E425*

c.1273G>T

1 paper

NM_004333.6

p.S419F

c.1256C>T