Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.Q52R

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
2 papers
NM_004333.6
p.Q52R
c.155A>G
Surrounding Variants
2 papers
NM_004333.6
p.Q52L
c.155A>T
1 paper
NM_004333.6
p.Q52P
c.155A>C
2 papers
NM_004333.6
p.Q52delFs
c.154delG
2 papers
NM_004333.6
p.Q52*
c.154C>T
2 papers
NM_004333.6
p.Q52H
c.156A>T
1 paper
NM_004333.6
p.Q52H
c.156A>C
1 paper
NM_004333.6
p.Q52insFs
c.155_156ins5
2 papers
NM_004333.6
p.K51N
c.153A>T
1 paper
NM_004333.6
p.K51N
c.153A>C
3 papers
NM_004333.6
p.M53T
c.158T>C
1 paper
NM_004333.6
p.M53K
c.158T>A
2 papers
NM_004333.6
p.K51R
c.152A>G
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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."