Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.P282P

GNAI1

73 papers

RefSeq Summary

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and ca...

Pfam Domains

G-alphaaa 13–343UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

G protein subunit alpha i1

HGNC Previous Name

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002069.6
p.P282P
c.846T>C
Surrounding Variants
1 paper
NM_002069.6
p.K279R
c.836A>G
1 paper
NM_002069.6
p.I278fs
c.832_833fs
2 papers
NM_002069.6
p.I278insFs
c.832dupA
1 paper
NM_002069.6
p.E276fs
c.826_827fs
2 papers
NM_002069.6
p.D272G
c.815A>G
4 papers
NM_002069.6
p.K270N
c.810G>C
4 papers
NM_002069.6
p.K270N
c.810G>T
5 papers
NM_002069.6
p.K270R
c.809A>G
3 papers
NM_002069.6
p.F267S
c.800T>C
1 paper
NM_002069.6
p.R242Q
c.725G>A
1 paper
NM_002069.6
p.A235V
c.704C>T
3 papers
NM_002069.6
p.C224Y
c.671G>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."