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

14 papers

NM_024854.5

p.N155S

c.464A>G

Surrounding Variants

5 papers

NM_024854.5

p.Q138_E139Splc

c.415-976A>G

5 papers

NM_024854.5

p.Q138_E139Splc

c.414+1G>A

1 paper

NM_024854.5

p.R132C

c.394C>T

1 paper

NM_024854.5

p.C122Y

c.365G>A

2 papers

NM_024854.5

p.L112fs

c.334_335fs

2 papers

NM_024854.5

p.L110_C111delFs

c.329_332del4

1 paper

NM_024854.5

p.Y107delFs

c.320delA

1 paper

NM_001350912.2

p.G110_N111delFs

c.329_332del4

1 paper

NM_024854.5

p.E241D

c.723A>C

1 paper

NM_024854.5

p.E241D

c.723A>T

1 paper

NM_024854.5

p.E250A

c.749A>C

1 paper

NM_024854.5

p.E250_F251Splc

c.750+5C>A