Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.E265delFs

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.E265delFs
c.795delA
Surrounding Variants
2 papers
NM_001122764.3
p.G266E
c.797G>A
1 paper
NM_001122764.3
p.R267fs
c.799_800fs
2 papers
NM_001122764.3
p.R267C
c.799C>T
2 papers
NM_001122764.3
p.W268*
c.803G>A
2 papers
NM_001122764.3
p.W268*
c.804G>A
3 papers
NM_001122764.3
p.K269K
c.807G>A
1 paper
NM_001122764.3
p.K269_V270Splc
c.807+2T>C
4 papers
NM_001122764.3
p.V257D
c.770T>A
1 paper
NM_001122764.3
p.V257fs
c.769_770fs
1 paper
NM_001122764.3
p.P256insFs
c.767_768insT
12 papers
NM_001122764.3
p.P256R
c.767C>G
2 papers
NM_001122764.3
p.V257delFs
c.769delG
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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."