Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G206Splc

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.G206Splc
c.616+1G>T
Surrounding Variants
1 paper
NM_001122764.3
p.G206Splc
c.616+1G>A
1 paper
NM_001122764.3
p.G206Splc
c.616+1G>C
2 papers
NM_001122764.3
p.G206Splc
c.616+2T>A
1 paper
NM_001122764.3
p.A205G
c.614C>G
3 papers
NM_001122764.3
p.A205V
c.614C>T
1 paper
NM_001122764.3
p.G204G
c.612G>T
1 paper
NM_001122764.3
p.G204E
c.611G>A
1 paper
NM_001122764.3
p.L202delFs
c.604delC
1 paper
NM_001122764.3
p.L198*
c.593T>A
1 paper
NM_001122764.3
p.L198*
c.593T>G
1 paper
NM_001122764.3
p.R195H
c.584G>A
2 papers
NM_001122764.3
p.R195C
c.583C>T
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