Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.T47R

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.T47R
c.140C>G
Surrounding Variants
1 paper
NM_002072.5
p.T47S
c.139A>T
1 paper
NM_002072.5
p.T47Fs
c.139delinsTTFs
2 papers
NM_002072.5
p.G48*
c.142G>T
2 papers
NM_002072.5
p.G48R
c.142G>C
2 papers
NM_002072.5
p.G48R
c.142G>A
14 papers
NM_002072.5
p.G48V
c.143G>T
1 paper
NM_002072.5
p.G48A
c.143G>C
3 papers
NM_002072.5
p.G48delins
c.142_143delinsTT
1 paper
NM_002072.5
p.G46W
c.136G>T
2 papers
NM_002072.5
p.E49V
c.146A>T
1 paper
NM_002072.5
p.E49G
c.146A>G
1 paper
NM_002072.5
p.S53R
c.157A>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."