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.A394S

c.1180G>T

Surrounding Variants

1 paper

NM_000637.5

p.A389A

c.1167T>C

1 paper

NM_000637.5

p.D407N

c.1219G>A

1 paper

NM_000637.5

p.D407G

c.1220A>G

1 paper

NM_000637.5

p.N410K

c.1230C>G

1 paper

NM_000637.5

p.N410K

c.1230C>A

1 paper

NM_000637.5

p.V385Splc

c.1154-45A>C

1 paper

NM_000637.5

p.P419fs

c.1255_1256fs

1 paper

NM_000637.5

p.H433P

c.1298A>C

1 paper

NM_000637.5

p.Y451Y

c.1353T>C

1 paper

NM_000637.5

p.V462L

c.1384G>T

1 paper

NM_000637.5

p.V462L

c.1384G>C

1 paper

NM_000637.5

p.K473_V474Splc

c.1419+26T>C