Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.I279N

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
26 papers
NM_020988.3
p.I279N
c.836T>A
Surrounding Variants
1 paper
NM_020988.3
p.I279insFs
c.836_837dupTC
1 paper
NM_020988.3
p.K280delFs
c.839delA
4 papers
NM_020988.3
p.K278del1
c.832_833delAAG
1 paper
NM_020988.3
p.G276_E277delFs
c.828_831del4
17 papers
NM_020988.3
p.F275S
c.824T>C
2 papers
NM_020988.3
p.L284S
c.851T>C
10 papers
NM_020988.3
p.D273V
c.818A>T
1 paper
NM_020988.3
p.D273H
c.817G>C
5 papers
NM_020988.3
p.D273Y
c.817G>T
1 paper
NM_020988.3
p.I286V
c.856A>G
2 papers
NM_020988.3
p.K271N
c.813G>C
2 papers
NM_020988.3
p.K271N
c.813G>T
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