Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.L73P

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
4 papers
NM_001122764.3
p.L73P
c.218T>C
Surrounding Variants
1 paper
NM_001122764.3
p.L73V
c.217C>G
2 papers
NM_001122764.3
p.L74P
c.221T>C
1 paper
NM_001122764.3
p.L72insFs
c.215dupT
1 paper
NM_001122764.3
p.A69V
c.206C>T
1 paper
NM_001122764.3
p.A69T
c.205G>A
1 paper
NM_001122764.3
p.G68E
c.203G>A
1 paper
NM_001122764.3
p.L67insFs
c.200_201insT
2 papers
NM_001122764.3
p.A66V
c.197C>T
2 papers
NM_001122764.3
p.L67delFs
c.199delC
1 paper
NM_001122764.3
p.I61insFs
c.182dupT
1 paper
NM_001122764.3
p.G60R
c.178G>A
3 papers
NM_001122764.3
p.R59Q
c.176G>A
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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."