Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.R210G

GNAQ

1,010 papers

RefSeq Summary

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Muta...

Pfam Domains

G-alphaaa 19–348UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

G protein subunit alpha q

HGNC Alias Symbols

G-ALPHA-q; GAQ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002072.5
p.R210G
c.628A>G
Surrounding Variants
6 papers
NM_002072.5
p.R210K
c.629G>A
56 papers
NM_002072.5
p.Q209H
c.627A>T
52 papers
NM_002072.5
p.Q209H
c.627A>C
240 papers
NM_002072.5
p.Q209L
c.626A>T
46 papers
NM_002072.5
p.Q209R
c.626A>G
210 papers
NM_002072.5
p.Q209P
c.626A>C
2 papers
NM_002072.5
p.Q209delins
c.625_626delinsTT
1 paper
NM_002072.5
p.Q209*
c.625C>T
9 papers
NM_002072.5
p.Q209K
c.625C>A
1 paper
NM_002072.5
p.G208_Q209delins
c.623_625delinsCCA
1 paper
NM_002072.5
p.Q209fs
c.625_626fs
3 papers
NM_002072.5
p.S211L
c.632C>T
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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."