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

2 papers

NM_018129.4

p.G250delFs

c.748_749delGG

Surrounding Variants

1 paper

NM_018129.4

p.G250R

c.748G>A

1 paper

NM_018129.4

p.G250R

c.748G>C

2 papers

NM_018129.4

p.E251_E252del1

c.752_754delAGG

2 papers

NM_018129.4

p.G250G

c.750G>A

1 paper

NM_018129.4

p.E251Q

c.751G>C

1 paper

NM_018129.4

p.H248N

c.742C>A

1 paper

NM_018129.4

p.D253delFs

c.758delA

1 paper

NM_018129.4

p.W254_L255delFs

c.760_763del4

1 paper

NM_018129.4

p.W254R

c.760T>A

2 papers

NM_018129.4

p.W254R

c.760T>C

1 paper

NM_018129.4

p.L259delFs

c.777delT

13 papers

NM_018129.4

p.*262Q

c.784T>C