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.S116L

c.347C>T

Surrounding Variants

1 paper

NM_004333.6

p.S116*

c.347C>A

1 paper

NM_004333.6

p.S116fs

c.346_347fs

1 paper

NM_004333.6

p.M117L

c.349A>T

1 paper

NM_004333.6

p.M117L

c.349A>C

1 paper

NM_004333.6

p.A115_S116insFs

c.345_346insC

1 paper

NM_004333.6

p.S116del1

c.346_347delTGA

1 paper

NM_004333.6

p.M117R

c.350T>G

2 papers

NM_004333.6

p.M117T

c.350T>C

1 paper

NM_004333.6

p.M117K

c.350T>A

1 paper

NM_004333.6

p.A115V

c.344C>T

2 papers

NM_004333.6

p.M117I

c.351G>T

1 paper

NM_004333.6

p.A115S

c.343G>T