Varaico: Literature-Extracted Genetic Variants

Gene:PDXP
Variant:p.A93T

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.A93T
c.277G>A
Surrounding Variants
1 paper
NM_020315.5
p.A93S
c.277G>T
1 paper
NM_020315.5
p.A93V
c.278C>T
1 paper
NM_020315.5
p.A92D
c.275C>A
1 paper
NM_020315.5
p.A92S
c.274G>T
1 paper
NM_020315.5
p.F86L
c.258C>A
1 paper
NM_020315.5
p.F86L
c.258C>G
1 paper
NM_020315.5
p.F86L
c.256T>C
1 paper
NM_020315.5
p.A73P
c.217G>C
1 paper
NM_020315.5
p.A73S
c.217G>T
1 paper
NM_020315.5
p.A69V
c.206C>T
1 paper
NM_020315.5
p.E116D
c.348G>C
1 paper
NM_020315.5
p.E116D
c.348G>T
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