Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.H105Q

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.H105Q
c.315C>A
Surrounding Variants
1 paper
NM_002072.5
p.H105Q
c.315C>G
1 paper
NM_002072.5
p.E104D
c.312G>T
1 paper
NM_002072.5
p.E104D
c.312G>C
1 paper
NM_002072.5
p.K107*
c.319A>T
1 paper
NM_002072.5
p.Y103fs
c.307_308fs
1 paper
NM_002072.5
p.Y103*
c.309T>G
1 paper
NM_002072.5
p.Y103*
c.309T>A
1 paper
NM_002072.5
p.K107N
c.321G>T
1 paper
NM_002072.5
p.K107delFs
c.319_320delTT
1 paper
NM_002072.5
p.K107delFs
c.321delC
1 paper
NM_002072.5
p.K102M
c.305A>T
39 papers
NM_002072.5
p.Y101*
c.303C>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."