Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.R206Q

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
6 papers
NM_020988.3
p.R206Q
c.617G>A
Surrounding Variants
4 papers
NM_020988.3
p.R206L
c.617G>T
2 papers
NM_020988.3
p.R206*
c.616C>T
14 papers
NM_020988.3
p.Q205L
c.614A>T
7 papers
NM_020988.3
p.S207Y
c.620C>A
4 papers
NM_020988.3
p.S207F
c.620C>T
2 papers
NM_020988.3
p.E208Q
c.622G>C
1 paper
NM_020988.3
p.G204D
c.611G>A
1 paper
NM_020988.3
p.G204V
c.611G>T
8 papers
NM_020988.3
p.G204R
c.610G>C
13 papers
NM_020988.3
p.R209G
c.625C>G
67 papers
NM_020988.3
p.R209C
c.625C>T
48 papers
NM_020988.3
p.R209H
c.626G>A
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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."