Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.M243I

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.M243I
c.729G>A
Surrounding Variants
1 paper
NM_001377295.2
p.M243I
c.729G>T
1 paper
NM_001377295.2
p.M243I
c.729G>C
2 papers
NM_001377295.2
p.M243T
c.728T>C
5 papers
NM_001377295.2
p.H244fs
c.730_731fs
1 paper
NM_001377295.2
p.H244fs
c.730_731fs
2 papers
NM_001377295.2
p.R242H
c.725G>A
1 paper
NM_001377295.2
p.R242C
c.724C>T
5 papers
NM_001377295.2
p.H244_H248delFs
c.730_743del14
1 paper
NM_001377295.2
p.S252_I253del1
c.756_758delATG
1 paper
NM_001377295.2
p.C254R
c.760T>C
1 paper
NM_001377295.2
p.S252_I253del2
c.754_758del6
1 paper
NM_001377295.2
p.A260T
c.778G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."