Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.I309delFs

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.I309delFs
c.925delA
Surrounding Variants
1 paper
NM_001122764.3
p.T310A
c.928A>G
1 paper
NM_001122764.3
p.L306P
c.917T>C
1 paper
NM_001122764.3
p.L306L
c.916C>T
2 papers
NM_001122764.3
p.L306delFs
c.916_917delCT
10 papers
NM_001122764.3
p.R304H
c.911G>A
1 paper
NM_001122764.3
p.S313Y
c.938C>A
1 paper
NM_001122764.3
p.A315T
c.943G>A
1 paper
NM_001122764.3
p.P301L
c.902C>T
1 paper
NM_001122764.3
p.V317M
c.949G>A
2 papers
NM_001122764.3
p.A300S
c.898G>T
1 paper
NM_001122764.3
p.E298*
c.892G>T
4 papers
NM_001122764.3
p.L295P
c.884T>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."