Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.R223H

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
1 paper
NM_001122764.3
p.R223H
c.668G>A
Surrounding Variants
3 papers
NM_001122764.3
p.W224R
c.670T>A
3 papers
NM_001122764.3
p.W224R
c.670T>C
3 papers
NM_001122764.3
p.W224G
c.670T>G
2 papers
NM_001122764.3
p.W224*
c.671G>A
2 papers
NM_001122764.3
p.W224*
c.672G>A
1 paper
NM_001122764.3
p.E222K
c.664G>A
1 paper
NM_001122764.3
p.A221_R223delFs
c.663_667del5
2 papers
NM_001122764.3
p.L220ins4
c.658_659ins12
1 paper
NM_001122764.3
p.A219P
c.655G>C
1 paper
NM_001122764.3
p.R217R
c.651C>G
2 papers
NM_001122764.3
p.R217C
c.649C>T
2 papers
NM_001122764.3
p.R230G
c.688C>G
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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."