Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.V240M

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.V240M
c.718G>A
Surrounding Variants
1 paper
NM_002072.5
p.L239F
c.715C>T
2 papers
NM_002072.5
p.L239I
c.715C>A
1 paper
NM_002072.5
p.S242A
c.724T>G
1 paper
NM_002072.5
p.S242P
c.724T>C
1 paper
NM_002072.5
p.V238L
c.712G>C
1 paper
NM_002072.5
p.S242L
c.725C>T
1 paper
NM_002072.5
p.S242S
c.726A>G
3 papers
NM_002072.5
p.Q237*
c.709C>T
1 paper
NM_002072.5
p.Q237K
c.709C>A
1 paper
NM_002072.5
p.M227_D236del10
c.679_707del30
1 paper
NM_002072.5
p.D236G
c.707A>G
1 paper
NM_002072.5
p.D236Y
c.706G>T
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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."