Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.E246K

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
59 papers
NM_020988.3
p.E246K
c.736G>A
Surrounding Variants
3 papers
NM_020988.3
p.E246Q
c.736G>C
1 paper
NM_020988.3
p.E246_S247insD
c.736_740ins3
1 paper
NM_020988.3
p.E246delins
c.736_738delinsAAA
11 papers
NM_020988.3
p.E246G
c.737A>G
3 papers
NM_020988.3
p.E246V
c.737A>T
1 paper
NM_020988.3
p.E246ins1
c.737_738insCGA
1 paper
NM_020988.3
p.M244K
c.731T>A
1 paper
NM_020988.3
p.L248P
c.743T>C
8 papers
NM_020988.3
p.R243H
c.728G>A
5 papers
NM_020988.3
p.N242T
c.725A>C
3 papers
NM_020988.3
p.L250F
c.748C>T
3 papers
NM_020988.3
p.F251L
c.751T>C
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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."