Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.H20P

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
8 papers
NM_001122764.3
p.H20P
c.59A>C
Surrounding Variants
2 papers
NM_001122764.3
p.Y19C
c.56A>G
2 papers
NM_001122764.3
p.L21Q
c.62T>A
1 paper
NM_001122764.3
p.S22N
c.65G>A
1 paper
NM_001122764.3
p.A17T
c.49G>A
1 paper
NM_001122764.3
p.A16G
c.47C>G
7 papers
NM_001122764.3
p.L15F
c.45G>C
7 papers
NM_001122764.3
p.L15F
c.45G>T
3 papers
NM_001122764.3
p.G14A
c.41G>C
4 papers
NM_001122764.3
p.C26_P27insFs
c.78_79insC
1 paper
NM_001122764.3
p.P28delFs
c.83delC
1 paper
NM_001122764.3
p.C26W
c.78C>G
2 papers
NM_001122764.3
p.G14S
c.40G>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."