Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.E26K

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.E26K
c.76G>A
Surrounding Variants
1 paper
NM_002072.5
p.E26Q
c.76G>C
1 paper
NM_002072.5
p.R27W
c.79C>T
1 paper
NM_002072.5
p.E24K
c.70G>A
1 paper
NM_002072.5
p.D23fs
c.67_68fs
1 paper
NM_002072.5
p.D23N
c.67G>A
1 paper
NM_002072.5
p.R20_N22del3
c.58_65del9
1 paper
NM_002072.5
p.L29F
c.85C>T
1 paper
NM_002072.5
p.I21delins
c.61delinsAGGC
1 paper
NM_002072.5
p.I21delFs
c.61delT
1 paper
NM_002072.5
p.R31S
c.93G>T
1 paper
NM_002072.5
p.R31S
c.93G>C
1 paper
NM_002072.5
p.D32N
c.94G>A
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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."