Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.D163Y

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.D163Y
c.487G>T
Surrounding Variants
1 paper
NM_002072.5
p.D163N
c.487G>A
1 paper
NM_002072.5
p.L164W
c.491T>G
1 paper
NM_002072.5
p.L164*
c.491T>A
1 paper
NM_002072.5
p.D165N
c.493G>A
1 paper
NM_002072.5
p.R166C
c.496C>T
3 papers
NM_002072.5
p.R166H
c.497G>A
1 paper
NM_002072.5
p.V167I
c.499G>A
1 paper
NM_002072.5
p.V167G
c.500T>G
1 paper
NM_002072.5
p.A168S
c.502G>T
6 papers
NM_002072.5
p.P170S
c.508C>T
1 paper
NM_002072.5
p.Y159Splc
c.477-13T>C
1 paper
NM_002072.5
p.A171T
c.511G>A
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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."