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.R116P

c.347G>C

Surrounding Variants

36 papers

NM_018129.4

p.R116Q

c.347G>A

2 papers

NM_018129.4

p.S115N

c.344G>A

15 papers

NM_018129.4

p.G118R

c.352G>A

14 papers

NM_018129.4

p.G118R

c.352G>C

4 papers

NM_018129.4

p.E120K

c.358G>A

1 paper

NM_018129.4

p.E120insFs

c.359dupA

1 paper

NM_018129.4

p.E120*

c.358G>T

1 paper

NM_018129.4

p.L121L

c.363G>T

4 papers

NM_018129.4

p.L121_D122Splc

c.363+5G>A

1 paper

NM_018129.4

p.R108delFs

c.322delC

1 paper

NM_018129.4

p.K100R

c.299A>G

1 paper

NM_018129.4

p.L98P

c.293T>C