Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.A89G

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.A89G
c.266C>G
Surrounding Variants
1 paper
NM_002072.5
p.A89T
c.265G>A
1 paper
NM_002072.5
p.Q88L
c.263A>T
1 paper
NM_002072.5
p.Q88*
c.262C>T
1 paper
NM_002072.5
p.I91T
c.272T>C
2 papers
NM_002072.5
p.A86T
c.256G>A
1 paper
NM_002072.5
p.A93D
c.278C>A
1 paper
NM_002072.5
p.F84V
c.250T>G
1 paper
NM_002072.5
p.F84I
c.250T>A
1 paper
NM_002072.5
p.M94I
c.282G>T
1 paper
NM_002072.5
p.M94I
c.282G>C
1 paper
NM_002072.5
p.M94I
c.282G>A
1 paper
NM_002072.5
p.D95Y
c.283G>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."