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.F225insFs

c.675dupT

Surrounding Variants

1 paper

NM_000637.5

p.Q226fs

c.676_677fs

1 paper

NM_000637.5

p.Q226Q

c.678G>A

2 papers

NM_000637.5

p.L230F

c.690G>T

2 papers

NM_000637.5

p.L230F

c.690G>C

1 paper

NM_000637.5

p.T220T

c.660C>G

1 paper

NM_000637.5

p.G232S

c.694G>A

2 papers

NM_000637.5

p.S216S

c.648C>T

1 paper

NM_000637.5

p.S216R

c.648C>G

1 paper

NM_000637.5

p.S216R

c.648C>A

1 paper

NM_000637.5

p.S216R

c.646A>C

1 paper

NM_000637.5

p.G214Splc

c.641-1G>A

1 paper

NM_000637.5

p.P213S

c.637C>T