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.V47L

c.139G>T

Surrounding Variants

1 paper

NM_004333.6

p.V47Fs

c.139delinsTTFs

2 papers

NM_004333.6

p.V47L

c.139G>C

1 paper

NM_004333.6

p.V47M

c.139G>A

1 paper

NM_004333.6

p.V47A

c.140T>C

1 paper

NM_004333.6

p.V47V

c.141G>A

1 paper

NM_004333.6

p.E46_V47Splc

c.139-2A>T

1 paper

NM_004333.6

p.W48_N49insTGG

c.142_146ins9

1 paper

NM_004333.6

p.W48*

c.143G>A

1 paper

NM_004333.6

p.W48*

c.144G>A

2 papers

NM_004333.6

p.N49Y

c.145A>T

1 paper

NM_004333.6

p.N49D

c.145A>G

1 paper

NM_004333.6

p.N49H

c.145A>C