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.E151Q

c.451G>C

Surrounding Variants

1 paper

NM_018129.4

p.E151_C156del0

c.452_466del15

1 paper

NM_018129.4

p.E151A

c.452A>C

8 papers

NM_018129.4

p.P150fs

c.448_449fs

1 paper

NM_018129.4

p.L149_P150delFs

c.447_448delGC

10 papers

NM_018129.4

p.P150_E151delFs

c.448_451del4

1 paper

NM_018129.4

p.K148_L149delFs

c.442_446del5

1 paper

NM_018129.4

p.V146insFs

c.437dupT

4 papers

NM_018129.4

p.Y157*

c.471C>A

4 papers

NM_018129.4

p.Y157*

c.471C>G

1 paper

NM_018129.4

p.H159delFs

c.476delA

1 paper

NM_018129.4

p.E143Q

c.427G>C

2 papers

NM_018129.4

p.V142M

c.424G>A