Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.A299insFs

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.A299insFs
c.896_897insT
Surrounding Variants
2 papers
NM_001377295.2
p.A299E
c.896C>A
1 paper
NM_001377295.2
p.Y296_A299Fs
c.886_896delinsTFs
2 papers
NM_001377295.2
p.Y296H
c.886T>C
3 papers
NM_001377295.2
p.Y302*
c.906C>G
3 papers
NM_001377295.2
p.Y302*
c.906C>A
1 paper
NM_001377295.2
p.A299_I303Fs
c.896_907delinsTFs
1 paper
NM_001377295.2
p.S305R
c.913A>C
1 paper
NM_001377295.2
p.S305R
c.915C>G
1 paper
NM_001377295.2
p.S305R
c.915C>A
2 papers
NM_001377295.2
p.N311N
c.933T>C
5 papers
NM_001377295.2
p.R313*
c.937C>T
1 paper
NM_001377295.2
p.G292Splc
c.875-25T>C
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