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

1 paper

NM_018129.4

p.F218delFs

c.654delC

Surrounding Variants

1 paper

NM_018129.4

p.Q220delFs

c.660delA

1 paper

NM_018129.4

p.G221delFs

c.662_663delGT

4 papers

NM_018129.4

p.Q214insFs

c.641dupA

4 papers

NM_018129.4

p.Q214fs

c.640_641fs

9 papers

NM_018129.4

p.P213S

c.637C>T

1 paper

NM_018129.4

p.P213delFs

c.637delC

18 papers

NM_018129.4

p.R225C

c.673C>T

36 papers

NM_018129.4

p.R225H

c.674G>A

7 papers

NM_018129.4

p.R225L

c.674G>T

1 paper

NM_018129.4

p.L226P

c.677T>C

1 paper

NM_018129.4

p.V210delFs

c.629delT

1 paper

NM_018129.4

p.D228_R229del2

c.682_686del6