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.R233C

c.697C>T

Surrounding Variants

2 papers

NM_000637.5

p.G232S

c.694G>A

1 paper

NM_000637.5

p.V235I

c.703G>A

2 papers

NM_000637.5

p.G232Splc

c.696-10C>T

1 paper

NM_000637.5

p.A252D

c.755C>A

1 paper

NM_000637.5

p.K256Q

c.766A>C

1 paper

NM_000637.5

p.F270L

c.808T>C

1 paper

NM_000637.5

p.M273V

c.817A>G

1 paper

NM_000637.5

p.E281*

c.841G>T

1 paper

NM_000637.5

p.V287V

c.861G>A

1 paper

NM_000637.5

p.V289A

c.866T>C

1 paper

NM_000637.5

p.S293C

c.878C>G

1 paper

NM_000637.5

p.G232S

c.694G>A