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.R42S

c.124C>A

Surrounding Variants

1 paper

NM_000637.5

p.S41C

c.122C>G

1 paper

NM_000637.5

p.S41Y

c.122C>A

1 paper

NM_000637.5

p.L40L

c.120C>T

1 paper

NM_000637.5

p.A34E

c.101C>A

1 paper

NM_000637.5

p.E32G

c.95A>G

1 paper

NM_000637.5

p.E32*

c.94G>T

2 papers

NM_000637.5

p.E32K

c.94G>A

1 paper

NM_000637.5

p.P52T

c.154C>A

1 paper

NM_000637.5

p.P31P

c.93C>A

1 paper

NM_000637.5

p.L30P

c.89T>C

1 paper

NM_000637.5

p.G54delFs

c.161delC

1 paper

NM_000637.5

p.L28M

c.82C>A