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

3 papers

NM_024854.5

p.V298_Y299delFs

c.892_895del4

Surrounding Variants

3 papers

NM_024854.5

p.V298fs

c.892_893fs

1 paper

NM_024854.5

p.V300M

c.898G>A

1 paper

NM_024854.5

p.E294Splc

c.881-6T>G

1 paper

NM_024854.5

p.N304D

c.910A>G

1 paper

NM_024854.5

p.G309S

c.925G>A

5 papers

NM_024854.5

p.Y354C

c.1061A>G

1 paper

NM_024854.5

p.G357S

c.1069G>A

1 paper

NM_001350913.2

p.V110_W111delFs

c.329_332del4

1 paper

NM_024854.5

p.Q372Q

c.1116G>A

6 papers

NM_024854.5

p.Q372H

c.1116G>C

6 papers

NM_024854.5

p.Q372H

c.1116G>T

1 paper

NM_024854.5

p.V263I

c.787G>A