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.R506S

c.1518G>C

Surrounding Variants

1 paper

NM_004333.6

p.R506S

c.1518G>T

1 paper

NM_004333.6

p.R506R

c.1518G>A

3 papers

NM_004333.6

p.K507E

c.1519A>G

1 paper

NM_004333.6

p.K507Q

c.1519A>C

4 papers

NM_004333.6

p.R506G

c.1516A>G

1 paper

NM_004333.6

p.T508A

c.1522A>G

2 papers

NM_004333.6

p.T508I

c.1523C>T

1 paper

NM_004333.6

p.T508T

c.1524A>G

1 paper

NM_004333.6

p.T508_R509ins4

c.1524_1525ins12

5 papers

NM_004333.6

p.R509*

c.1525C>T

3 papers

NM_004333.6

p.R509L

c.1526G>T

1 paper

NM_004333.6

p.R509P

c.1526G>C