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.T54_S55del1

c.161_163delCCT

Surrounding Variants

1 paper

NM_018129.4

p.L53insFs

c.158dupT

2 papers

NM_018129.4

p.L53V

c.157C>G

1 paper

NM_018129.4

p.H52L

c.155A>T

2 papers

NM_018129.4

p.S55S

c.165C>T

13 papers

NM_018129.4

p.E50K

c.148G>A

1 paper

NM_018129.4

p.V59G

c.176T>G

1 paper

NM_018129.4

p.Q61R

c.182A>G

1 paper

NM_018129.4

p.F62delFs

c.186delT

2 papers

NM_018129.4

p.W65L

c.194G>T

1 paper

NM_018129.4

p.F66Y

c.197T>A

1 paper

NM_018129.4

p.E68V

c.203A>T

1 paper

NM_018129.4

p.D74G

c.221A>G