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.F19S

c.56T>C

Surrounding Variants

1 paper

NM_004333.6

p.F19F

c.57C>T

1 paper

NM_004333.6

p.L18_F19insFs

c.54_55insT

1 paper

NM_004333.6

p.L18L

c.54G>A

1 paper

NM_004333.6

p.N20Y

c.58A>T

1 paper

NM_004333.6

p.F19del1

c.55_56delGAA

2 papers

NM_004333.6

p.L18P

c.53T>C

26 papers

NM_004333.6

p.N20I

c.59A>T

16 papers

NM_004333.6

p.N20S

c.59A>G

2 papers

NM_004333.6

p.L18V

c.52C>G

1 paper

NM_004333.6

p.E13_A17del0

c.37_51del15

1 paper

NM_004333.6

p.A17A

c.51T>A

2 papers

NM_004333.6

p.G21R

c.61G>C