Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.G40R

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
30 papers
NM_020988.3
p.G40R
c.118G>C
Surrounding Variants
30 papers
NM_020988.3
p.G40R
c.118G>A
8 papers
NM_020988.3
p.G40W
c.118G>T
11 papers
NM_020988.3
p.G40E
c.119G>A
1 paper
NM_020988.3
p.G40A
c.119G>C
2 papers
NM_020988.3
p.G40V
c.119G>T
1 paper
NM_020988.3
p.L39P
c.116T>C
1 paper
NM_020988.3
p.L39_G40ins0
c.116_118dupTCG
2 papers
NM_020988.3
p.L39del1
c.115_116delCTC
1 paper
NM_020988.3
p.L37F
c.109C>T
1 paper
NM_020988.3
p.L37_L38del1
c.111_113delCCT
2 papers
NM_020988.3
p.L36*
c.107T>A
2 papers
NM_020988.3
p.L36*
c.107T>G
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