Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.L42L

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.L42L
c.124C>T
Surrounding Variants
1 paper
NM_002072.5
p.L42Fs
c.125delinsTTFs
1 paper
NM_002072.5
p.K41E
c.121A>G
1 paper
NM_002072.5
p.L40F
c.118C>T
1 paper
NM_002072.5
p.L45L
c.135C>T
1 paper
NM_002072.5
p.R38W
c.112C>T
1 paper
NM_002072.5
p.G46Splc
c.136+2T>C
2 papers
NM_002072.5
p.R37H
c.110G>A
2 papers
NM_002072.5
p.D35D
c.105C>T
1 paper
NM_002072.5
p.D32N
c.94G>A
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.L29F
c.85C>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."