Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.E133A

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.E133A
c.398A>C
Surrounding Variants
1 paper
NM_001122764.3
p.E133G
c.398A>G
1 paper
NM_001122764.3
p.E133V
c.398A>T
5 papers
NM_001122764.3
p.E133E
c.399G>A
2 papers
NM_001122764.3
p.E133K
c.397G>A
1 paper
NM_001122764.3
p.E133D
c.399G>C
8 papers
NM_001122764.3
p.E133*
c.397G>T
1 paper
NM_001122764.3
p.E133delFs
c.397_398delGA
1 paper
NM_001122764.3
p.R132W
c.394A>T
1 paper
NM_001122764.3
p.W128*
c.384G>A
1 paper
NM_001122764.3
p.W128*
c.383G>A
6 papers
NM_001122764.3
p.R138P
c.413G>C
1 paper
NM_001122764.3
p.R138L
c.413G>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."