Varaico: Literature-Extracted Genetic Variants

Gene:GNAT1
Variant:p.I218T

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
4 papers
NM_144499.3
p.I218T
c.653T>C
Surrounding Variants
1 paper
NM_144499.3
p.A221S
c.661G>T
1 paper
NM_144499.3
p.Y226*
c.678C>A
1 paper
NM_144499.3
p.Y226*
c.678C>G
1 paper
NM_144499.3
p.E232Q
c.694G>C
1 paper
NM_144499.3
p.R201L
c.602G>T
1 paper
NM_144499.3
p.R201C
c.601C>T
3 papers
NM_144499.3
p.Q200L
c.599A>T
14 papers
NM_144499.3
p.Q200E
c.598C>G
1 paper
NM_144499.3
p.R193delFs
c.577delC
1 paper
NM_144499.3
p.F185L
c.553T>C
1 paper
NM_144499.3
p.S173*
c.518C>A
1 paper
NM_144499.3
p.E241K
c.721G>A
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