Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.D205Y

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.D205Y
c.613G>T
Surrounding Variants
2 papers
NM_002072.5
p.V206I
c.616G>A
3 papers
NM_002072.5
p.G207R
c.619G>C
3 papers
NM_002072.5
p.G207R
c.619G>A
1 paper
NM_002072.5
p.M203L
c.607A>T
4 papers
NM_002072.5
p.M203V
c.607A>G
1 paper
NM_002072.5
p.G207V
c.620G>T
2 papers
NM_002072.5
p.G207E
c.620G>A
1 paper
NM_002072.5
p.R202Splc
c.606-1G>T
1 paper
NM_002072.5
p.G208C
c.622G>T
1 paper
NM_002072.5
p.G208A
c.623G>C
1 paper
NM_002072.5
p.G208G
c.624C>T
1 paper
NM_002072.5
p.G208fs
c.622_623fs
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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."