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.G104E

c.311G>A

Surrounding Variants

1 paper

NM_004333.6

p.G104W

c.310G>T

2 papers

NM_004333.6

p.G104R

c.310G>C

2 papers

NM_004333.6

p.G104R

c.310G>A

1 paper

NM_004333.6

p.N105fs

c.313_314fs

2 papers

NM_004333.6

p.G104delFs

c.312delC

1 paper

NM_004333.6

p.G104delFs

c.311_312delCC

1 paper

NM_004333.6

p.L103_G104delFs

c.309_312del4

2 papers

NM_004333.6

p.Q98_G104del0

c.294_311del18

1 paper

NM_004333.6

p.E101_L103del0

c.302_307del6

2 papers

NM_004333.6

p.N105N

c.315C>T

1 paper

NM_004333.6

p.N105K

c.315C>G

1 paper

NM_004333.6

p.S102delFs

c.306delA