Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.K140fs

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.K140fs
c.418_419fs
Surrounding Variants
1 paper
NM_001122764.3
p.K140delFs
c.418_419delAA
2 papers
NM_001122764.3
p.G139D
c.416G>A
6 papers
NM_001122764.3
p.R138P
c.413G>C
1 paper
NM_001122764.3
p.R138L
c.413G>T
1 paper
NM_001122764.3
p.P142S
c.424C>T
1 paper
NM_001122764.3
p.D143G
c.428A>G
3 papers
NM_001122764.3
p.D143V
c.428A>T
1 paper
NM_001122764.3
p.E144K
c.430G>A
2 papers
NM_001122764.3
p.T145I
c.434C>T
5 papers
NM_001122764.3
p.E133E
c.399G>A
1 paper
NM_001122764.3
p.E133D
c.399G>C
1 paper
NM_001122764.3
p.E133A
c.398A>C
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