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

1–12 of 148 variants

4 papers

NM_000637.5

p.I70M

c.210C>G

4 papers

NM_000637.5

p.R153C

c.457C>T

2 papers

NM_000637.5

p.F23F

c.69C>T

2 papers

NM_000637.5

p.E32K

c.94G>A

2 papers

NM_000637.5

p.C134S

c.400T>A

2 papers

NM_000637.5

p.C134S

c.401G>C

2 papers

NM_000637.5

p.S187T

c.560G>C

2 papers

NM_000637.5

p.S216S

c.648C>T

2 papers

NM_000637.5

p.L230F

c.690G>T

2 papers

NM_000637.5

p.L230F

c.690G>C

2 papers

NM_000637.5

p.G232Splc

c.696-10C>T

2 papers

NM_000637.5

p.G232S

c.694G>A