Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.P193T

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
2 papers
NM_002072.5
p.P193T
c.577C>A
Surrounding Variants
5 papers
NM_002072.5
p.P193L
c.578C>T
2 papers
NM_002072.5
p.Y192C
c.575A>G
2 papers
NM_002072.5
p.F194L
c.580T>C
1 paper
NM_002072.5
p.Y192H
c.574T>C
1 paper
NM_002072.5
p.Y192N
c.574T>A
2 papers
NM_002072.5
p.F194L
c.582T>G
2 papers
NM_002072.5
p.F194L
c.582T>A
2 papers
NM_002072.5
p.E191K
c.571G>A
1 paper
NM_002072.5
p.I190S
c.569T>G
1 paper
NM_002072.5
p.D195D
c.585C>T
1 paper
NM_002072.5
p.L196V
c.586T>G
2 papers
NM_002072.5
p.I190V
c.568A>G
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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."