Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.Q176R

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.Q176R
c.527A>G
Surrounding Variants
2 papers
NM_002072.5
p.Q176*
c.526C>T
1 paper
NM_002072.5
p.Q176K
c.526C>A
3 papers
NM_002072.5
p.T175M
c.524C>T
3 papers
NM_002072.5
p.T175R
c.524C>G
4 papers
NM_002072.5
p.T175S
c.523A>T
1 paper
NM_002072.5
p.P174R
c.521C>G
5 papers
NM_002072.5
p.V179M
c.535G>A
1 paper
NM_002072.5
p.L173_P174ins16
c.517_521ins48
1 paper
NM_002072.5
p.L173M
c.517C>A
1 paper
NM_002072.5
p.L180V
c.538C>G
1 paper
NM_002072.5
p.Y172*
c.516C>G
1 paper
NM_002072.5
p.Y172_V179del8
c.514_536del24
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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."