Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ

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
1–12 of 450 variants
240 papers
NM_002072.5
p.Q209L
c.626A>T
227 papers
NM_002072.5
p.R183Q
c.548G>A
210 papers
NM_002072.5
p.Q209P
c.626A>C
68 papers
NM_002072.5
p.T96S
c.286A>T
56 papers
NM_002072.5
p.Q209H
c.627A>T
52 papers
NM_002072.5
p.Q209H
c.627A>C
46 papers
NM_002072.5
p.Q209R
c.626A>G
42 papers
NM_002072.5
p.Y101*
c.303C>A
39 papers
NM_002072.5
p.Y101*
c.303C>G
24 papers
NM_002072.5
p.R183G
c.547C>G
17 papers
NM_002072.5
p.M59L
c.175A>C
16 papers
NM_002072.5
p.M59L
c.175A>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."