Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.R330C

GSS

300 papers

RefSeq Summary

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein...

Pfam Domains

GSH_synth_ATPaa 12–472UCSCEukaryotic glutathione synthase, ATP binding domain
GSH_synthaseaa 204–302UCSCEukaryotic glutathione synthase

Gene Aliases

HGNC Name

glutathione synthetase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000178.4
p.R330C
c.988C>T
Surrounding Variants
1 paper
NM_000178.4
p.R330H
c.989G>A
1 paper
NM_000178.4
p.A329V
c.986C>T
1 paper
NM_000178.4
p.R332C
c.994C>T
1 paper
NM_000178.4
p.G337S
c.1009G>A
1 paper
NM_000178.4
p.L341P
c.1022T>C
1 paper
NM_000178.4
p.V343M
c.1027G>A
1 paper
NM_000178.4
p.V343_G344Splc
c.1029+5G>A
8 papers
NM_000178.4
p.P314L
c.941C>T
1 paper
NM_000178.4
p.Q308*
c.922C>T
1 paper
NM_000178.4
p.K305E
c.913A>G
2 papers
NM_000178.4
p.L301P
c.902T>C
1 paper
NM_000178.4
p.P295T
c.883C>A
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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."