Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.V249delFs

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.V249delFs
c.746delT
Surrounding Variants
1 paper
NM_001122764.3
p.V249I
c.745G>A
1 paper
NM_001122764.3
p.V249insFs
c.746_747insC
1 paper
NM_001122764.3
p.V249insFs
c.746_747insG
2 papers
NM_001122764.3
p.V249delFs
c.745delG
1 paper
NM_001122764.3
p.S246N
c.737G>A
1 paper
NM_001122764.3
p.R253delFs
c.759delA
1 paper
NM_001122764.3
p.L244R
c.731T>G
1 paper
NM_001122764.3
p.G254D
c.761G>A
1 paper
NM_001122764.3
p.P256T
c.766C>A
1 paper
NM_001122764.3
p.P256insFs
c.766_767insGG
1 paper
NM_001122764.3
p.P256A
c.766C>G
1 paper
NM_001122764.3
p.P256fs
c.766_767fs
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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."