Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.K215*

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.K215*
c.643A>T
Surrounding Variants
2 papers
NM_002072.5
p.K215delFs
c.643delT
1 paper
NM_002072.5
p.W216L
c.647G>T
3 papers
NM_002072.5
p.R213*
c.637A>T
1 paper
NM_002072.5
p.I217L
c.649A>T
1 paper
NM_002072.5
p.I217L
c.649A>C
1 paper
NM_002072.5
p.R213_R214insT
c.637_641ins3
2 papers
NM_002072.5
p.E212Q
c.634G>C
2 papers
NM_002072.5
p.E212K
c.634G>A
1 paper
NM_002072.5
p.E212fs
c.634_635fs
1 paper
NM_002072.5
p.S211S
c.633A>G
3 papers
NM_002072.5
p.S211L
c.632C>T
1 paper
NM_002072.5
p.S211*
c.632C>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."