Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.V482G

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.V482G
c.1445T>G
Surrounding Variants
1 paper
NM_004333.6
p.V482V
c.1446G>T
1 paper
NM_004333.6
p.V482V
c.1446G>A
1 paper
NM_004333.6
p.V482M
c.1444G>A
50 papers
NM_004333.6
p.K483E
c.1447A>G
9 papers
NM_004333.6
p.K483Q
c.1447A>C
2 papers
NM_004333.6
p.A481E
c.1442C>A
1 paper
NM_004333.6
p.A481delins
c.1441_1442delinsTT
2 papers
NM_004333.6
p.K483R
c.1448A>G
2 papers
NM_004333.6
p.K483T
c.1448A>C
6 papers
NM_004333.6
p.K483N
c.1449A>T
6 papers
NM_004333.6
p.K483N
c.1449A>C
1 paper
NM_004333.6
p.M484fs
c.1450_1451fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."