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.S409S

c.1227A>G

Surrounding Variants

1 paper

NM_004333.6

p.S409L

c.1226C>T

1 paper

NM_004333.6

p.L410insFs

c.1229_1230insGG

1 paper

NM_004333.6

p.S409A

c.1225T>G

1 paper

NM_004333.6

p.L410P

c.1229T>C

1 paper

NM_004333.6

p.G408G

c.1224C>T

1 paper

NM_004333.6

p.L410L

c.1230A>T

1 paper

NM_004333.6

p.T411A

c.1231A>G

1 paper

NM_004333.6

p.T411fs

c.1231_1232fs

1 paper

NM_004333.6

p.P407L

c.1220C>T

1 paper

NM_004333.6

p.N412D

c.1234A>G

1 paper

NM_004333.6

p.P407T

c.1219C>A

1 paper

NM_004333.6

p.N412S

c.1235A>G