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

4 papers

NM_004333.6

p.V413M

c.1237G>A

Surrounding Variants

2 papers

NM_004333.6

p.V413L

c.1237G>T

1 paper

NM_004333.6

p.V413insFs

c.1237_1238ins8

2 papers

NM_004333.6

p.V413L

c.1237G>C

1 paper

NM_004333.6

p.T411_N412delFs

c.1233_1236del4

1 paper

NM_004333.6

p.V413V

c.1239G>T

1 paper

NM_004333.6

p.N412S

c.1235A>G

1 paper

NM_004333.6

p.N412D

c.1234A>G

1 paper

NM_004333.6

p.T411fs

c.1231_1232fs

1 paper

NM_004333.6

p.K414K

c.1242A>G

1 paper

NM_004333.6

p.T411A

c.1231A>G

1 paper

NM_004333.6

p.A415V

c.1244C>T

1 paper

NM_004333.6

p.L410L

c.1230A>T