Varaico: Literature-Extracted Genetic Variants

PNPO

182 papers

RefSeq Summary

The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved...

Pfam Domains

PNPOx_Naa 66–195UCSCPyridoxamine 5'-phosphate oxidase

PNP_phzG_Caa 206–261UCSCPyridoxine 5'-phosphate oxidase C-terminal dimerisation region

Gene Aliases

HGNC Name

pyridoxamine 5'-phosphate oxidase

HGNC Alias Symbol

PDXPO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

34 papers

NM_018129.4

p.D33V

c.98A>T

Surrounding Variants

1 paper

NM_018129.4

p.M32L

c.94A>C

1 paper

NM_018129.4

p.M32L

c.94A>T

1 paper

NM_018129.4

p.R28R

c.84C>A

1 paper

NM_018129.4

p.R28H

c.83G>A

1 paper

NM_018129.4

p.R28L

c.83G>T

1 paper

NM_018129.4

p.S40N

c.119G>A

1 paper

NM_018129.4

p.R42S

c.124C>A

1 paper

NM_018129.4

p.R42insFs

c.125dupG

2 papers

NM_018129.4

p.H24fs

c.70_71fs

1 paper

NM_018129.4

p.S23N

c.68G>A

2 papers

NM_018129.4

p.S23insFs

c.69dupT

2 papers

NM_018129.4

p.Y21fs

c.61_62fs