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

16 papers

NM_004333.6

p.D587E

c.1761C>A

Surrounding Variants

17 papers

NM_004333.6

p.D587E

c.1761C>G

8 papers

NM_004333.6

p.L588F

c.1762C>T

3 papers

NM_004333.6

p.L588V

c.1762C>G

2 papers

NM_004333.6

p.D587G

c.1760A>G

18 papers

NM_004333.6

p.D587A

c.1760A>C

1 paper

NM_001378473.1

p.L536insFs

c.1607_1608insA

2 papers

NM_004333.6

p.L588R

c.1763T>G

6 papers

NM_004333.6

p.L588P

c.1763T>C

2 papers

NM_004333.6

p.L588H

c.1763T>A

1 paper

NM_004333.6

p.D587Y

c.1759G>T

1 paper

NM_004333.6

p.E586insFs

c.1758dupA

2 papers

NM_004333.6

p.D587H

c.1759G>C