Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.V335G

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
6 papers
NM_001122764.3
p.V335G
c.1004T>G
Surrounding Variants
1 paper
NM_001122764.3
p.V335_P336insFs
c.1005_1006insC
1 paper
NM_001122764.3
p.L334L
c.1002G>A
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.H333N
c.997C>A
1 paper
NM_001122764.3
p.H333_L334delFs
c.997_1001del5
1 paper
NM_001122764.3
p.S338*
c.1013C>G
4 papers
NM_001122764.3
p.G332A
c.995G>C
3 papers
NM_001122764.3
p.E339K
c.1015G>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.F331L
c.991T>C
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