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

5 papers

NM_004333.6

p.A29V

c.86C>T

Surrounding Variants

4 papers

NM_004333.6

p.A29G

c.86C>G

1 paper

NM_004333.6

p.A29insFs

c.86_87insA

3 papers

NM_004333.6

p.A29D

c.86C>A

5 papers

NM_004333.6

p.A29S

c.85G>T

9 papers

NM_004333.6

p.A29P

c.85G>C

8 papers

NM_004333.6

p.A29T

c.85G>A

1 paper

NM_004333.6

p.A29fs

c.85_86fs

1 paper

NM_004333.6

p.A29insFs

c.86_87insC

1 paper

NM_004333.6

p.G30_A31insGGA

c.88_92ins9

3 papers

NM_004333.6

p.G30R

c.88G>C

1 paper

NM_004333.6

p.G30S

c.88G>A

2 papers

NM_004333.6

p.A29delFs

c.87delG