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

1–12 of 153 variants

36 papers

NM_018129.4

p.R116Q

c.347G>A

36 papers

NM_018129.4

p.R225H

c.674G>A

34 papers

NM_018129.4

p.D33V

c.98A>T

20 papers

NM_018129.4

p.R229W

c.685C>T

18 papers

NM_018129.4

p.R225C

c.673C>T

17 papers

NM_018129.4

p.R229Q

c.686G>A

15 papers

NM_018129.4

p.R95C

c.283C>T

15 papers

NM_018129.4

p.G118R

c.352G>A

14 papers

NM_018129.4

p.G118R

c.352G>C

14 papers

NM_018129.4

p.R161C

c.481C>T

13 papers

NM_018129.4

p.E50K

c.148G>A

13 papers

NM_018129.4

p.*262Q

c.784T>C