Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.R313*

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
5 papers
NM_001377295.2
p.R313*
c.937C>T
Surrounding Variants
2 papers
NM_001377295.2
p.N311N
c.933T>C
1 paper
NM_001377295.2
p.R313_K314insFs
c.939_940insA
1 paper
NM_001377295.2
p.D315N
c.943G>A
1 paper
NM_001377295.2
p.K314del1
c.940_941delTTT
1 paper
NM_001377295.2
p.I319fs
c.955_956fs
3 papers
NM_001377295.2
p.I319delFs
c.955delT
1 paper
NM_001377295.2
p.S305R
c.915C>G
1 paper
NM_001377295.2
p.S305R
c.915C>A
1 paper
NM_001377295.2
p.S305R
c.913A>C
1 paper
NM_001377295.2
p.A299_I303Fs
c.896_907delinsTFs
3 papers
NM_001377295.2
p.Y302*
c.906C>G
3 papers
NM_001377295.2
p.Y302*
c.906C>A
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