Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.H63D

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.H63D
c.187C>G
Surrounding Variants
1 paper
NM_002072.5
p.H63R
c.188A>G
1 paper
NM_002072.5
p.I62S
c.185T>G
1 paper
NM_002072.5
p.G64R
c.190G>C
1 paper
NM_002072.5
p.G64R
c.190G>A
1 paper
NM_002072.5
p.G64V
c.191G>T
1 paper
NM_002072.5
p.G64A
c.191G>C
1 paper
NM_002072.5
p.Q58_R60delFs
c.172_179del8
1 paper
NM_002072.5
p.R60T
c.179G>C
4 papers
NM_002072.5
p.R60*
c.178A>T
1 paper
NM_002072.5
p.R60G
c.178A>G
1 paper
NM_002072.5
p.M59T
c.176T>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."