Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.D272G

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.D272G
c.815A>G
Surrounding Variants
2 papers
NM_001377295.2
p.D272V
c.815A>T
3 papers
NM_001377295.2
p.K271del1
c.811_812delCTT
2 papers
NM_001377295.2
p.L268insFs
c.803_804ins4
1 paper
NM_001377295.2
p.L268fs
c.802_803fs
1 paper
NM_001377295.2
p.L268insFs
c.802_803ins4
2 papers
NM_001377295.2
p.I278fs
c.832_833fs
2 papers
NM_001377295.2
p.I278insFs
c.832dupA
1 paper
NM_001377295.2
p.V281D
c.842T>A
1 paper
NM_001377295.2
p.V281_H282insFs
c.843_844ins4
3 papers
NM_001377295.2
p.H282insFs
c.844_845ins4
1 paper
NM_001377295.2
p.L283F
c.847C>T
1 paper
NM_001377295.2
p.A260T
c.778G>A
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