Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G332A

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
4 papers
NM_001122764.3
p.G332A
c.995G>C
Surrounding Variants
1 paper
NM_001122764.3
p.H333_L334delFs
c.997_1001del5
1 paper
NM_001122764.3
p.H333N
c.997C>A
1 paper
NM_001122764.3
p.F331L
c.993T>A
1 paper
NM_001122764.3
p.F331L
c.993T>G
1 paper
NM_001122764.3
p.H333R
c.998A>G
1 paper
NM_001122764.3
p.H333L
c.998A>T
1 paper
NM_001122764.3
p.F331L
c.991T>C
4 papers
NM_001122764.3
p.G330R
c.988G>A
1 paper
NM_001122764.3
p.L334L
c.1002G>A
3 papers
NM_001122764.3
p.G330R
c.988G>C
1 paper
NM_001122764.3
p.Q329_G330Splc
c.988-1G>C
6 papers
NM_001122764.3
p.V335G
c.1004T>G
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