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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GSS

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

1–12 of 197 variants

12 papers

chr20:34932121 G>A

NM_000178.4

p.R283C

c.847C>T

GSH_synth_ATP GSH_synthase

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

10 papers

chr20:34942488 C>T

NM_000178.4

p.R164Q

c.491G>A

GSH_synth_ATP

Exome: 0.0% (AC=121, hom=0)Genome: 0.0% (AC=6, hom=0)10 overlapping SVs

9 papers

chr20:34942606 G>A

NM_000178.4

p.R125C

c.373C>T

GSH_synth_ATP

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=37, hom=0)10 overlapping SVs

9 papers

chr20:34942594 T>C

NM_000178.4

p.M129V

c.385A>G

GSH_synth_ATP

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, 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

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

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

8 papers

chr20:34936976 T>C

NM_000178.4

p.D219G

c.656A>G

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=2, hom=0)10 overlapping SVs

8 papers

chr20:34932027 G>A

NM_000178.4

p.P314L

c.941C>T

GSH_synth_ATP

Exome: 0.0% (AC=509, hom=2)Genome: 0.3% (AC=409, hom=0)9 overlapping SVs

6 papers

chr20:34951776 G>T

NM_000178.4

p.A26D

c.77C>A

GSH_synth_ATP

Exome: 0.0% (AC=4, hom=0)Genome: n/a9 overlapping SVs

6 papers

chr20:34942941 C>A

NM_000178.4

p.G114V

c.341G>T

GSH_synth_ATP

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

6 papers

chr20:34941758 A>G

NM_000178.4

p.L188P

c.563T>C

GSH_synth_ATP

exact variant not in gnomAD10 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."