Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.L235P

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.L235P
c.704T>C
Surrounding Variants
35 papers
NM_020988.3
p.E237K
c.709G>A
10 papers
NM_020988.3
p.Q233P
c.698A>C
2 papers
NM_020988.3
p.E237D
c.711A>C
2 papers
NM_020988.3
p.E237D
c.711A>T
1 paper
NM_020988.3
p.Q233fs
c.697_698fs
1 paper
NM_020988.3
p.D238G
c.713A>G
1 paper
NM_020988.3
p.D232H
c.694G>C
1 paper
NM_020988.3
p.E239K
c.715G>A
21 papers
NM_020988.3
p.Y231C
c.692A>G
6 papers
NM_020988.3
p.S229R
c.687C>A
6 papers
NM_020988.3
p.S229R
c.687C>G
2 papers
NM_020988.3
p.T241M
c.722C>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."