Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.V158L

PPOX

288 papers

RefSeq Summary

This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porph...

Pfam Domains

Amino_oxidaseaa 12–471UCSCFlavin containing amine oxidoreductase

Gene Aliases

HGNC Name

protoporphyrinogen oxidase

HGNC Previous Symbol

VP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001122764.3
p.V158L
c.472G>C
Surrounding Variants
4 papers
NM_001122764.3
p.V158M
c.472G>A
2 papers
NM_001122764.3
p.V158L
c.472G>T
1 paper
NM_001122764.3
p.V158A
c.473T>C
1 paper
NM_001122764.3
p.A159V
c.476C>T
1 paper
NM_001122764.3
p.A159A
c.477G>A
1 paper
NM_001122764.3
p.S160P
c.478T>C
1 paper
NM_001122764.3
p.S160A
c.478T>G
1 paper
NM_001122764.3
p.L161R
c.482T>G
1 paper
NM_001122764.3
p.D164A
c.491A>C
1 paper
NM_001122764.3
p.C167Y
c.500G>A
1 paper
NM_001122764.3
p.C167S
c.500G>C
16 papers
NM_001122764.3
p.R168C
c.502C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."