Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.D201Y

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
1 paper
NM_020988.3
p.D201Y
c.601G>T
Surrounding Variants
2 papers
NM_020988.3
p.D201V
c.602A>T
17 papers
NM_020988.3
p.L199P
c.596T>C
1 paper
NM_020988.3
p.L199R
c.596T>G
82 papers
NM_020988.3
p.G203R
c.607G>A
76 papers
NM_020988.3
p.G203R
c.607G>C
1 paper
NM_020988.3
p.G203delins
c.607_609delinsACA
3 papers
NM_020988.3
p.G203E
c.608G>A
1 paper
NM_020988.3
p.G203A
c.608G>C
8 papers
NM_020988.3
p.G204R
c.610G>C
1 paper
NM_020988.3
p.G204D
c.611G>A
1 paper
NM_020988.3
p.G204V
c.611G>T
14 papers
NM_020988.3
p.Q205L
c.614A>T
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."