Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.M129V

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
9 papers
NM_000178.4
p.M129V
c.385A>G
Surrounding Variants
1 paper
NM_000178.4
p.Y128Y
c.384C>T
2 papers
NM_000178.4
p.Y128C
c.383A>G
1 paper
NM_000178.4
p.D127N
c.379G>A
2 papers
NM_000178.4
p.R125L
c.374G>T
2 papers
NM_000178.4
p.R125H
c.374G>A
9 papers
NM_000178.4
p.R125C
c.373C>T
1 paper
NM_000178.4
p.S133S
c.399C>T
1 paper
NM_000178.4
p.A134T
c.400G>A
1 paper
NM_000178.4
p.L123M
c.367C>A
1 paper
NM_000178.4
p.G136G
c.408C>T
1 paper
NM_000178.4
p.V119V
c.357G>A
2 papers
NM_000178.4
p.E144K
c.430G>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."