Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.T76T

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
5 papers
NM_002072.5
p.T76T
c.228C>T
Surrounding Variants
1 paper
NM_002072.5
p.R73_G74delFs
c.218_221del4
1 paper
NM_002072.5
p.G74A
c.221G>C
1 paper
NM_002072.5
p.R73K
c.218G>A
1 paper
NM_002072.5
p.Q81E
c.241C>G
1 paper
NM_002072.5
p.D71_K72insFs
c.213_214insT
1 paper
NM_002072.5
p.Q81H
c.243G>T
1 paper
NM_002072.5
p.Q81H
c.243G>C
1 paper
NM_002072.5
p.E70G
c.209A>G
1 paper
NM_002072.5
p.E70Q
c.208G>C
2 papers
NM_002072.5
p.E70K
c.208G>A
1 paper
NM_002072.5
p.F84V
c.250T>G
1 paper
NM_002072.5
p.F84I
c.250T>A
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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."