Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.Q52P

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
3 papers
NM_002069.6
p.Q52P
c.155A>C
Surrounding Variants
1 paper
NM_002069.6
p.K54N
c.162A>C
1 paper
NM_002069.6
p.K54N
c.162A>T
5 papers
NM_002069.6
p.T48K
c.143C>A
4 papers
NM_002069.6
p.T48I
c.143C>T
1 paper
NM_002069.6
p.K46E
c.136A>G
2 papers
NM_002069.6
p.G45D
c.134G>A
1 paper
NM_002069.6
p.G45V
c.134G>T
1 paper
NM_002069.6
p.G45_S47delins
c.134_141delinsATAAAGGA
1 paper
NM_002069.6
p.G60S
c.178G>A
1 paper
NM_002069.6
p.G60C
c.178G>T
1 paper
NM_002069.6
p.Q68_K70del3
c.202_209del9
1 paper
NM_002069.6
p.Y74_S75del1
c.222_224delCAG
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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."