Varaico: Literature-Extracted Genetic Variants

GSR

218 papers

RefSeq Summary

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and re...

Pfam Domains

FAD_oxidoredaa 66–201UCSCFAD dependent oxidoreductase

Pyr_redoxaa 233–313UCSCPyridine nucleotide-disulphide oxidoreductase

Pyr_redox_dimaa 411–522UCSCPyridine nucleotide-disulphide oxidoreductase, dimerisation domain

Gene Aliases

HGNC Name

glutathione-disulfide reductase

HGNC Alias Symbol

GRase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000637.5

p.C102S

c.304T>A

Surrounding Variants

1 paper

NM_000637.5

p.C102S

c.305G>C

1 paper

NM_000637.5

p.L98M

c.292C>A

1 paper

NM_000637.5

p.A88S

c.262G>T

1 paper

NM_000637.5

p.R82T

c.245G>C

1 paper

NM_000637.5

p.R81H

c.242G>A

1 paper

NM_000637.5

p.L68_G72delFs

c.204_214del11

4 papers

NM_000637.5

p.I70M

c.210C>G

1 paper

NM_000637.5

p.V69M

c.205G>A

1 paper

NM_000637.5

p.D66H

c.196G>C

1 paper

NM_000637.5

p.S64Y

c.191C>A

1 paper

NM_000637.5

p.A63A

c.189C>T

1 paper

NM_000637.5

p.V62M

c.184G>A