Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.I114V

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.I114V
c.340A>G
Surrounding Variants
1 paper
NM_001377295.2
p.Q106_A111del6
c.316_332del18
4 papers
NM_001377295.2
p.L107I
c.319C>A
3 papers
NM_001377295.2
p.R105*
c.313C>T
1 paper
NM_001377295.2
p.L123L
c.369C>T
7 papers
NM_001377295.2
p.V124M
c.370G>A
1 paper
NM_001377295.2
p.E125K
c.373G>A
1 paper
NM_001377295.2
p.A143T
c.427G>A
1 paper
NM_001377295.2
p.S153F
c.458C>T
8 papers
NM_001377295.2
p.Y154Splc
c.461+24G>A
1 paper
NM_001377295.2
p.A101_D102Splc
c.303+3A>G
1 paper
NM_001377295.2
p.A101A
c.303G>A
1 paper
NM_001377295.2
p.A101V
c.302C>T
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