Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.T96S

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
68 papers
NM_002072.5
p.T96S
c.286A>T
Surrounding Variants
1 paper
NM_002072.5
p.D95E
c.285C>G
1 paper
NM_002072.5
p.D95E
c.285C>A
1 paper
NM_002072.5
p.D95Y
c.283G>T
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.A93D
c.278C>A
1 paper
NM_002072.5
p.R92_I99del0
c.274_297del24
1 paper
NM_002072.5
p.P100L
c.299C>T
1 paper
NM_002072.5
p.I91T
c.272T>C
1 paper
NM_002072.5
p.R92_P100del0
c.274_300del27
2 papers
NM_002072.5
p.Y101C
c.302A>G
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