Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1

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
1–12 of 287 variants
82 papers
NM_020988.3
p.G203R
c.607G>A
76 papers
NM_020988.3
p.G203R
c.607G>C
67 papers
NM_020988.3
p.R209C
c.625C>T
59 papers
NM_020988.3
p.E246K
c.736G>A
48 papers
NM_020988.3
p.R209H
c.626G>A
35 papers
NM_020988.3
p.E237K
c.709G>A
30 papers
NM_020988.3
p.G40R
c.118G>A
30 papers
NM_020988.3
p.G40R
c.118G>C
27 papers
NM_020988.3
p.D174G
c.521A>G
26 papers
NM_020988.3
p.I279N
c.836T>A
23 papers
NM_020988.3
p.A227V
c.680C>T
21 papers
NM_020988.3
p.Y231C
c.692A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."