Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.K29_V30Splc

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.K29_V30Splc
c.87+121G>C
Surrounding Variants
2 papers
NM_001122764.3
p.K29_V30Splc
c.88-47C>G
1 paper
NM_001122764.3
p.K29_V30Splc
c.88-36A>C
1 paper
NM_001122764.3
p.K29_V30Splc
c.88-2A>C
1 paper
NM_001122764.3
p.V30A
c.89T>C
1 paper
NM_001122764.3
p.V31D
c.92T>A
3 papers
NM_001122764.3
p.E34V
c.101A>T
5 papers
NM_001122764.3
p.R38P
c.113G>C
4 papers
NM_001122764.3
p.G40E
c.119G>A
3 papers
NM_001122764.3
p.G40A
c.119G>C
1 paper
NM_001122764.3
p.G41C
c.121G>T
1 paper
NM_001122764.3
p.W42R
c.124T>A
1 paper
NM_001122764.3
p.W42R
c.124T>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."