Varaico: Literature-Extracted Genetic Variants

Gene:PDXP
Variant:p.I287V

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.I287V
c.859A>G
Surrounding Variants
1 paper
NM_020315.5
p.E285K
c.853G>A
1 paper
NM_020315.5
p.L271V
c.811C>G
1 paper
NM_020315.5
p.R263H
c.788G>A
2 papers
NM_020315.5
p.R249S
c.745C>A
1 paper
NM_020315.5
p.R239C
c.715C>T
1 paper
NM_020315.5
p.R232C
c.694C>T
1 paper
NM_020315.5
p.E224K
c.670G>A
1 paper
NM_020315.5
p.C221C
c.663C>T
1 paper
NM_020315.5
p.C221S
c.662G>C
1 paper
NM_020315.5
p.C221S
c.661T>A
1 paper
NM_020315.5
p.E220E
c.660G>A
1 paper
NM_020315.5
p.C221insFs
c.661dupT
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