Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.R183Q

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
227 papers
NM_002072.5
p.R183Q
c.548G>A
Surrounding Variants
15 papers
NM_002072.5
p.R183L
c.548G>T
9 papers
NM_002072.5
p.R183*
c.547C>T
24 papers
NM_002072.5
p.R183G
c.547C>G
1 paper
NM_002072.5
p.V182V
c.546T>A
1 paper
NM_002072.5
p.V182A
c.545T>C
3 papers
NM_002072.5
p.V182I
c.544G>A
4 papers
NM_002072.5
p.P185S
c.553C>T
1 paper
NM_002072.5
p.R181T
c.542G>C
1 paper
NM_002072.5
p.P185L
c.554C>T
1 paper
NM_002072.5
p.R181G
c.541A>G
1 paper
NM_002072.5
p.T186S
c.556A>T
1 paper
NM_002072.5
p.T186S
c.557C>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."