Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.V223_F228delFs

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.V223_F228delFs
c.669_682del14
Surrounding Variants
6 papers
NM_002072.5
p.F228L
c.684T>G
6 papers
NM_002072.5
p.F228L
c.682T>C
6 papers
NM_002072.5
p.F228L
c.684T>A
1 paper
NM_002072.5
p.M227_F228delins
c.680_682delinsGCA
3 papers
NM_002072.5
p.M227I
c.681G>T
3 papers
NM_002072.5
p.M227I
c.681G>C
3 papers
NM_002072.5
p.M227I
c.681G>A
1 paper
NM_002072.5
p.I226delFs
c.677delA
2 papers
NM_002072.5
p.V230A
c.689T>C
1 paper
NM_002072.5
p.I226T
c.677T>C
1 paper
NM_002072.5
p.I226fs
c.676_677fs
2 papers
NM_002072.5
p.I226V
c.676A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."