Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.I180delFs

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.I180delFs
c.538_539delAT
Surrounding Variants
4 papers
NM_001122764.3
p.L178V
c.532C>G
1 paper
NM_001122764.3
p.E177A
c.530A>C
1 paper
NM_001122764.3
p.E177insFs
c.529_530insT
1 paper
NM_001122764.3
p.R176L
c.527G>T
1 paper
NM_001122764.3
p.P185R
c.554C>G
3 papers
NM_001122764.3
p.A172V
c.515C>T
1 paper
NM_001122764.3
p.A172S
c.514G>T
1 paper
NM_001122764.3
p.L187L
c.561C>T
1 paper
NM_001122764.3
p.Q189delFs
c.565delC
6 papers
NM_001122764.3
p.Q189*
c.565C>T
1 paper
NM_001122764.3
p.V170A
c.509T>C
7 papers
NM_001122764.3
p.G169E
c.506G>A
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