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

1–12 of 53 variants

14 papers

NM_024854.5

p.N155S

c.464A>G

10 papers

NM_024854.5

p.H95_C96Splc

c.285+1G>A

6 papers

NM_024854.5

p.Q372H

c.1116G>C

6 papers

NM_024854.5

p.Q372H

c.1116G>T

5 papers

NM_024854.5

p.Q138_E139Splc

c.414+1G>A

5 papers

NM_024854.5

p.Q138_E139Splc

c.415-976A>G

5 papers

NM_024854.5

p.Y354C

c.1061A>G

4 papers

NM_024854.5

p.A387insFs

c.1159_1160ins4

3 papers

NM_024854.5

p.V298_Y299delFs

c.892_895del4

3 papers

NM_024854.5

p.V298fs

c.892_893fs

3 papers

NM_024854.5

p.A387fs

c.1159_1160fs

2 papers

NM_024854.5

p.L110_C111delFs

c.329_332del4