Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.L232F

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.L232F
c.694C>T
Surrounding Variants
1 paper
NM_002072.5
p.L232H
c.695T>A
5 papers
NM_002072.5
p.A231V
c.692C>T
1 paper
NM_002072.5
p.S233T
c.698G>C
2 papers
NM_002072.5
p.V230A
c.689T>C
1 paper
NM_002072.5
p.E234*
c.700G>T
1 paper
NM_002072.5
p.E234K
c.700G>A
2 papers
NM_002072.5
p.E234G
c.701A>G
6 papers
NM_002072.5
p.F228L
c.684T>G
6 papers
NM_002072.5
p.F228L
c.684T>A
1 paper
NM_002072.5
p.V223_F228delFs
c.669_682del14
6 papers
NM_002072.5
p.F228L
c.682T>C
1 paper
NM_002072.5
p.M227_F228delins
c.680_682delinsGCA
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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."