Varaico: Literature-Extracted Genetic Variants

Gene:GNAT1
Variant:p.Q302*

GNAT1

127 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 9–339UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

G protein subunit alpha transducin 1

HGNC Alias Symbol

CSNBAD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_144499.3
p.Q302*
c.904C>T
Surrounding Variants
1 paper
NM_144499.3
p.L304P
c.911T>C
1 paper
NM_144499.3
p.G296V
c.887G>T
1 paper
NM_144499.3
p.A295V
c.884C>T
1 paper
NM_144499.3
p.E293_L304delFs
c.877_910del34
2 papers
NM_144499.3
p.G288Splc
c.863-2A>G
1 paper
NM_144499.3
p.Y316C
c.947A>G
1 paper
NM_144499.3
p.M319delFs
c.955delA
5 papers
NM_144499.3
p.C321*
c.963C>A
1 paper
NM_144499.3
p.Q326*
c.976C>T
1 paper
NM_144499.3
p.A334G
c.1001C>G
1 paper
NM_144499.3
p.K345*
c.1033A>T
1 paper
NM_144499.3
p.*351W
c.1053A>G
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