Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.T224N

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
6 papers
NM_002072.5
p.T224N
c.671C>A
Surrounding Variants
2 papers
NM_002072.5
p.S225P
c.673T>C
1 paper
NM_002072.5
p.V223A
c.668T>C
1 paper
NM_002072.5
p.S225insFs
c.674_675ins16
1 paper
NM_002072.5
p.S225Y
c.674C>A
1 paper
NM_002072.5
p.N222K
c.666T>G
1 paper
NM_002072.5
p.N222K
c.666T>A
1 paper
NM_002072.5
p.I226fs
c.676_677fs
2 papers
NM_002072.5
p.I226V
c.676A>G
1 paper
NM_002072.5
p.I226T
c.677T>C
1 paper
NM_002072.5
p.I226delFs
c.677delA
1 paper
NM_002072.5
p.N222D
c.664A>G
1 paper
NM_002072.5
p.H218_E221del4
c.652_662del12
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."