Varaico: Literature-Extracted Genetic Variants

Gene:PDXP
Variant:p.N32Y

PDXP

51 papers

RefSeq Summary

Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves...

Pfam Domains

Hydrolase_6aa 22–128UCSCHaloacid dehalogenase-like hydrolase
Hydrolase_likeaa 210–290UCSCHAD-hyrolase-like

Gene Aliases

HGNC Name

pyridoxal phosphatase

HGNC Alias Symbols

dJ37E16.5; FLJ32703; CIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020315.5
p.N32Y
c.94A>T
Surrounding Variants
1 paper
NM_020315.5
p.V37M
c.109G>A
3 papers
NM_020315.5
p.D25E
c.75C>A
3 papers
NM_020315.5
p.D25E
c.75C>G
1 paper
NM_020315.5
p.A40S
c.118G>T
1 paper
NM_020315.5
p.A19E
c.56C>A
1 paper
NM_020315.5
p.A50T
c.148G>A
1 paper
NM_020315.5
p.A50V
c.149C>T
1 paper
NM_020315.5
p.R13C
c.37C>T
1 paper
NM_020315.5
p.A11G
c.32C>G
1 paper
NM_020315.5
p.A10E
c.29C>A
1 paper
NM_020315.5
p.G9G
c.27A>G
1 paper
NM_020315.5
p.G9G
c.27A>T
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