Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.E13Q

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.E13Q
c.37G>C
Surrounding Variants
2 papers
NM_002072.5
p.E13K
c.37G>A
2 papers
NM_002072.5
p.S12I
c.35G>T
2 papers
NM_002072.5
p.S12N
c.35G>A
1 paper
NM_002072.5
p.E14Q
c.40G>C
1 paper
NM_002072.5
p.L11delFs
c.33delC
1 paper
NM_002072.5
p.L11L
c.33G>A
1 paper
NM_002072.5
p.E14G
c.41A>G
2 papers
NM_002072.5
p.L11P
c.32T>C
1 paper
NM_002072.5
p.C9*
c.27C>A
1 paper
NM_002072.5
p.K16K
c.48G>A
1 paper
NM_002072.5
p.C9Y
c.26G>A
2 papers
NM_002072.5
p.E17K
c.49G>A
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."