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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GSS

Variant:p.D268E

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:34935606 A>T

NM_000178.4

p.D268E

c.804T>A

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

Surrounding Variants

1 paper

chr20:34935606 A>C

NM_000178.4

p.D268E

c.804T>G

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34935605 C>T

NM_000178.4

p.G269S

c.805G>A

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:34935607 T>G

NM_000178.4

p.D268A

c.803A>C

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

9 papers

chr20:34935602 A>G

NM_000178.4

p.Y270H

c.808T>C

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

4 papers

chr20:34935610 C>T

NM_000178.4

p.R267Q

c.800G>A

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)10 overlapping SVs

9 papers

chr20:34935611 G>A

NM_000178.4

p.R267W

c.799C>T

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=25, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr20:34935611 G>C

NM_000178.4

p.R267G

c.799C>G

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34935601 T>A

NM_000178.4

p.Y270F

c.809A>T

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

9 papers

chr20:34935601 T>C

NM_000178.4

p.Y270C

c.809A>G

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=8, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:34935596 G>C

NM_000178.4

p.P272A

c.814C>G

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34935616 T>A

NM_000178.4

p.Y265F

c.794A>T

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34935593 G>A

NM_000178.4

p.R273C

c.817C>T

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=8, hom=0)10 overlapping SVs

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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."