Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.A101V

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.A101V
c.302C>T
Surrounding Variants
1 paper
NM_001377295.2
p.A101A
c.303G>A
1 paper
NM_001377295.2
p.A101_D102Splc
c.303+3A>G
2 papers
NM_001377295.2
p.E97_C100Fs
c.291_298delinsCTGTATFs
1 paper
NM_001377295.2
p.E97delins
c.291delinsCTGT
3 papers
NM_001377295.2
p.Y95_E97Fs
c.285_291delinsCTGTATFs
1 paper
NM_001377295.2
p.A96fs
c.286_287fs
1 paper
NM_001377295.2
p.A96fs
c.286_287fs
1 paper
NM_001377295.2
p.Y95fs
c.283_284fs
1 paper
NM_001377295.2
p.Y95C
c.284A>G
1 paper
NM_001377295.2
p.I93_D94del2
c.277_281del6
1 paper
NM_001377295.2
p.M88I
c.264G>T
1 paper
NM_001377295.2
p.M88I
c.264G>C
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