Varaico: Literature-Extracted Genetic Variants

Gene:PPOX

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
1–12 of 399 variants
76 papers
NM_001122764.3
p.R59W
c.175C>T
21 papers
NM_001122764.3
p.R168H
c.503G>A
17 papers
NM_001122764.3
p.V290M
c.868G>A
16 papers
NM_001122764.3
p.R168C
c.502C>T
14 papers
NM_001122764.3
p.R152C
c.454C>T
12 papers
NM_001122764.3
p.P256R
c.767C>G
11 papers
NM_001122764.3
p.I12T
c.35T>C
11 papers
NM_001122764.3
p.G232R
c.694G>C
11 papers
NM_001122764.3
p.G358R
c.1072G>A
11 papers
NM_001122764.3
p.G358R
c.1072G>C
10 papers
NM_001122764.3
p.R304H
c.911G>A
8 papers
NM_001122764.3
p.H20P
c.59A>C
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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."