Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.E4D

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
9 papers
NM_002072.5
p.E4D
c.12G>C
Surrounding Variants
4 papers
NM_002072.5
p.E4E
c.12G>A
1 paper
NM_002072.5
p.L3L
c.9G>C
1 paper
NM_002072.5
p.S5S
c.15C>T
7 papers
NM_002072.5
p.I6L
c.16A>C
1 paper
NM_002072.5
p.T2I
c.5C>T
1 paper
NM_002072.5
p.T2insFs
c.4_5insT
1 paper
NM_002072.5
p.T2insFs
c.4_5insC
1 paper
NM_002072.5
p.M7I
c.21G>T
1 paper
NM_002072.5
p.M1insFs
c.2_3ins5
1 paper
NM_002072.5
p.M1_T2insFs
c.3_4insA
1 paper
NM_002072.5
p.M7I
c.21G>C
1 paper
NM_002072.5
p.M7I
c.21G>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."