Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.A225insFs

GNAT2

138 papers

RefSeq Summary

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in r...

Pfam Domains

G-alphaaa 13–343UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

G protein subunit alpha transducin 2

HGNC Alias Symbol

ACHM4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377295.2
p.A225insFs
c.675dupA
Surrounding Variants
1 paper
NM_001377295.2
p.V233A
c.698T>C
1 paper
NM_001377295.2
p.C214S
c.641G>C
1 paper
NM_001377295.2
p.C214S
c.640T>A
1 paper
NM_001377295.2
p.D238N
c.712G>A
1 paper
NM_001377295.2
p.W211C
c.633G>T
2 papers
NM_001377295.2
p.W211C
c.633G>C
2 papers
NM_001377295.2
p.V240_N241Splc
c.720+2T>C
1 paper
NM_001377295.2
p.K210K
c.630G>A
1 paper
NM_001377295.2
p.V240_N241Splc
c.720+5G>C
1 paper
NM_001377295.2
p.R208T
c.623G>C
2 papers
NM_001377295.2
p.E207V
c.620A>T
1 paper
NM_001377295.2
p.E207Q
c.619G>C
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