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.F498L

c.1494C>G

Surrounding Variants

1 paper

NM_004333.6

p.F498F

c.1494C>T

1 paper

NM_004333.6

p.F498L

c.1494C>A

1 paper

NM_004333.6

p.F498C

c.1493T>G

2 papers

NM_004333.6

p.F498S

c.1493T>C

3 papers

NM_004333.6

p.F498Y

c.1493T>A

44 papers

NM_004333.6

p.K499E

c.1495A>G

1 paper

NM_004333.6

p.K499Q

c.1495A>C

1 paper

NM_004333.6

p.F498V

c.1492T>G

1 paper

NM_004333.6

p.F498L

c.1492T>C

1 paper

NM_004333.6

p.F498I

c.1492T>A

2 papers

NM_004333.6

p.K499R

c.1496A>G

2 papers

NM_004333.6

p.K499T

c.1496A>C