Varaico: Literature-Extracted Genetic Variants

Gene:GNAT1
Variant:p.S259P

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
1 paper
NM_144499.3
p.S259P
c.775T>C
Surrounding Variants
1 paper
NM_144499.3
p.T258P
c.772A>C
1 paper
NM_144499.3
p.V261E
c.782T>A
1 paper
NM_144499.3
p.Y254H
c.760T>C
1 paper
NM_144499.3
p.R253_T257Fs
c.758_771delinsCFs
1 paper
NM_144499.3
p.R253fs
c.757_758fs
2 papers
NM_144499.3
p.N251K
c.753C>A
2 papers
NM_144499.3
p.N251K
c.753C>G
1 paper
NM_144499.3
p.D268insFs
c.802_803ins4
2 papers
NM_144499.3
p.K273del1
c.817_818delAAG
1 paper
NM_144499.3
p.K273N
c.819G>C
2 papers
NM_144499.3
p.K273N
c.819G>T
1 paper
NM_144499.3
p.E241K
c.721G>A
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