Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.T263I

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
3 papers
NM_020988.3
p.T263I
c.788C>T
Surrounding Variants
2 papers
NM_020988.3
p.S264F
c.791C>T
3 papers
NM_020988.3
p.I261M
c.783C>G
1 paper
NM_020988.3
p.I265M
c.795C>G
1 paper
NM_020988.3
p.F259L
c.777C>A
1 paper
NM_020988.3
p.F259L
c.777C>G
1 paper
NM_020988.3
p.F259L
c.775T>C
1 paper
NM_020988.3
p.K258T
c.773A>C
1 paper
NM_020988.3
p.N257S
c.770A>G
1 paper
NM_020988.3
p.N257D
c.769A>G
18 papers
NM_020988.3
p.N270H
c.808A>C
5 papers
NM_020988.3
p.N270D
c.808A>G
1 paper
NM_020988.3
p.N270Y
c.808A>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."