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.G76_E77delFs

c.228_229delGG

Surrounding Variants

1 paper

NM_018129.4

p.I75R

c.224T>G

1 paper

NM_018129.4

p.D74G

c.221A>G

2 papers

NM_018129.4

p.A78D

c.233C>A

1 paper

NM_018129.4

p.N79S

c.236A>G

1 paper

NM_018129.4

p.M81K

c.242T>A

10 papers

NM_018129.4

p.C82delFs

c.246delT

1 paper

NM_018129.4

p.E68V

c.203A>T

2 papers

NM_018129.4

p.L83fs

c.247_248fs

1 paper

NM_018129.4

p.L83L

c.249G>A

1 paper

NM_018129.4

p.F66Y

c.197T>A

2 papers

NM_018129.4

p.W65L

c.194G>T

1 paper

NM_018129.4

p.C86R

c.256T>C