Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G232C

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.G232C
c.694G>T
Surrounding Variants
4 papers
NM_001122764.3
p.G232S
c.694G>A
11 papers
NM_001122764.3
p.G232R
c.694G>C
1 paper
NM_001122764.3
p.G232A
c.695G>C
1 paper
NM_001122764.3
p.R230H
c.689G>A
2 papers
NM_001122764.3
p.R230G
c.688C>G
2 papers
NM_001122764.3
p.R230C
c.688C>T
1 paper
NM_001122764.3
p.E234K
c.700G>A
1 paper
NM_001122764.3
p.E234A
c.701A>C
1 paper
NM_001122764.3
p.L236S
c.707T>C
1 paper
NM_001122764.3
p.P237S
c.709C>T
1 paper
NM_001122764.3
p.Q238*
c.712C>T
1 paper
NM_001122764.3
p.Q238H
c.714G>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."