Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.D174G

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
27 papers
NM_020988.3
p.D174G
c.521A>G
Surrounding Variants
2 papers
NM_020988.3
p.D174N
c.520G>A
2 papers
NM_020988.3
p.R177*
c.529C>T
3 papers
NM_020988.3
p.R177P
c.530G>C
7 papers
NM_020988.3
p.P170R
c.509C>G
1 paper
NM_020988.3
p.P170_D174delFs
c.509_521del13
5 papers
NM_020988.3
p.R179G
c.535A>G
1 paper
NM_020988.3
p.T182A
c.544A>G
1 paper
NM_020988.3
p.T182N
c.545C>A
5 papers
NM_020988.3
p.T182I
c.545C>T
1 paper
NM_020988.3
p.A165V
c.494C>T
1 paper
NM_020988.3
p.A165P
c.493G>C
1 paper
NM_020988.3
p.A165fs
c.493_494fs
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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."