Varaico: Literature-Extracted Genetic Variants

PYROXD1

49 papers

RefSeq Summary

This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other pr...

Pfam Domains

Pyr_redox_2aa 11–238UCSCPyridine nucleotide-disulphide oxidoreductase

Pyr_redox_2aa 252–383UCSCPyridine nucleotide-disulphide oxidoreductase

Rubredoxin_Caa 409–479UCSCRubredoxin NAD+ reductase C-terminal domain

Gene Aliases

HGNC Name

pyridine nucleotide-disulphide oxidoreductase domain 1

HGNC Alias Symbols

DKFZp762G094; FLJ22028

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024854.5

p.Q428H

c.1284G>C

Surrounding Variants

1 paper

NM_024854.5

p.Q428H

c.1284G>T

1 paper

NM_001350912.2

p.Y354C

c.1061A>G

1 paper

NM_024854.5

p.Y425_N426del1

c.1275_1277delCAA

1 paper

NM_024854.5

p.I475delFs

c.1425delC

1 paper

NM_024854.5

p.L476fs

c.1426_1427fs

1 paper

NM_024854.5

p.D487H

c.1459G>C

2 papers

NM_024854.5

p.E496del1

c.1486_1487delGAA

1 paper

NM_024854.5

p.E496A

c.1487A>C

1 paper

NM_024854.5

p.D497A

c.1490A>C

1 paper

NM_024854.5

p.D500A

c.1499A>C

1 paper

NM_024854.5

p.K418K

c.1254G>A

1 paper

NM_001350912.2

p.D329_F332del4

c.985_995del12