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

3 papers

NM_018129.4

p.R161H

c.482G>A

Surrounding Variants

4 papers

NM_018129.4

p.R161G

c.481C>G

14 papers

NM_018129.4

p.R161C

c.481C>T

1 paper

NM_018129.4

p.R161_K163del3

c.481_488del9

1 paper

NM_018129.4

p.K163delFs

c.488delA

1 paper

NM_018129.4

p.H159delFs

c.476delA

1 paper

NM_018129.4

p.S165G

c.493A>G

4 papers

NM_018129.4

p.Y157*

c.471C>A

4 papers

NM_018129.4

p.Y157*

c.471C>G

3 papers

NM_018129.4

p.I167T

c.500T>C

1 paper

NM_018129.4

p.G168E

c.503G>A

1 paper

NM_018129.4

p.E151A

c.452A>C

1 paper

NM_018129.4

p.E151Q

c.451G>C