Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.S53_T54delFs

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.S53_T54delFs
c.157_161del5
Surrounding Variants
1 paper
NM_002072.5
p.T54T
c.162G>C
4 papers
NM_002072.5
p.T54M
c.161C>T
1 paper
NM_002072.5
p.S53fs
c.157_158fs
1 paper
NM_002072.5
p.I56S
c.167T>G
1 paper
NM_002072.5
p.I56T
c.167T>C
1 paper
NM_002072.5
p.S53R
c.157A>C
1 paper
NM_002072.5
p.K57T
c.170A>C
1 paper
NM_002072.5
p.G51_K57del7
c.151_170del21
1 paper
NM_002072.5
p.Q58insFs
c.173_174ins16
16 papers
NM_002072.5
p.M59L
c.175A>T
17 papers
NM_002072.5
p.M59L
c.175A>C
1 paper
NM_002072.5
p.M59T
c.176T>C
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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."