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.S136*

c.407C>A

Surrounding Variants

2 papers

NM_004333.6

p.S136*

c.407C>G

2 papers

NM_004333.6

p.S136A

c.406T>G

2 papers

NM_004333.6

p.S136P

c.406T>C

1 paper

NM_004333.6

p.S136S

c.408A>T

1 paper

NM_004333.6

p.S136fs

c.406_407fs

1 paper

NM_004333.6

p.L135_S136insFs

c.405_406insC

1 paper

NM_004333.6

p.L135_S136insFs

c.405_406insA

1 paper

NM_004333.6

p.L135L

c.405T>A

1 paper

NM_004333.6

p.V137L

c.409G>C

1 paper

NM_004333.6

p.V137I

c.409G>A

1 paper

NM_004333.6

p.V137V

c.411T>A

2 papers

NM_004333.6

p.L135F

c.403C>T