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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GSS

Variant:p.D219G

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

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

Surrounding Variants

4 papers

chr20:34936976 T>G

NM_000178.4

p.D219A

c.656A>C

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=13, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:34936982 A>G

NM_000178.4

p.I217T

c.650T>C

GSH_synthase GSH_synth_ATP

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

1 paper

chr20:34936968 C>T

NM_000178.4

p.A222T

c.664G>A

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34936985 T>A

NM_000178.4

p.N216I

c.647A>T

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34936988 C>T

NM_000178.4

p.R215K

c.644G>A

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34936956 C>T

NM_000178.4

p.E226K

c.676G>A

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34936954 C>A

NM_000178.4

p.E226D

c.678G>T

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34937001 G>C

NM_000178.4

p.Q211E

c.631C>G

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=144, hom=2)Genome: 0.0% (AC=49, hom=0)10 overlapping SVs

1 paper

chr20:34936947 C>T

NM_000178.4

p.A229T

c.685G>A

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34937008 C>T

NM_000178.4

p.L208L

c.624G>A

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:34936828 C>T

NM_000178.4

p.V234V

c.702G>A

GSH_synthase GSH_synth_ATP

exact variant not in gnomAD10 overlapping SVs

4 papers

chr20:34936823 C>T

NM_000178.4

p.R236Q

c.707G>A

GSH_synthase GSH_synth_ATP

Exome: 0.0% (AC=200, hom=0)Genome: 0.0% (AC=32, 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."