Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.C225Y

GNAO1

292 papers

RefSeq Summary

The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. T...

Pfam Domains

G-alphaaa 13–343UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

G protein subunit alpha o1

HGNC Alias Symbol

G-ALPHA-o

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_020988.3
p.C225Y
c.674G>A
Surrounding Variants
2 papers
NM_020988.3
p.C225R
c.673T>C
1 paper
NM_020988.3
p.V226delFs
c.676_677delGT
2 papers
NM_020988.3
p.V226fs
c.676_677fs
5 papers
NM_020988.3
p.A227T
c.679G>A
23 papers
NM_020988.3
p.A227V
c.680C>T
1 paper
NM_020988.3
p.I223T
c.668T>C
1 paper
NM_020988.3
p.I223V
c.667A>G
1 paper
NM_020988.3
p.L228P
c.683T>C
6 papers
NM_020988.3
p.S229R
c.685A>C
13 papers
NM_020988.3
p.A221D
c.662C>A
6 papers
NM_020988.3
p.S229R
c.687C>A
6 papers
NM_020988.3
p.S229R
c.687C>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."