Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.P120S

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.P120S
c.358C>T
Surrounding Variants
1 paper
NM_001122764.3
p.P121insFs
c.363dupC
1 paper
NM_001122764.3
p.P120P
c.360C>T
1 paper
NM_001122764.3
p.P121T
c.361C>A
1 paper
NM_001122764.3
p.P121S
c.361C>T
1 paper
NM_001122764.3
p.F122insFs
c.364_365insC
2 papers
NM_001122764.3
p.R117H
c.350G>A
1 paper
NM_001122764.3
p.S123T
c.367T>A
1 paper
NM_001122764.3
p.L116F
c.346C>T
2 papers
NM_001122764.3
p.L115L
c.343C>T
1 paper
NM_001122764.3
p.L126_W128delFs
c.378_382del5
2 papers
NM_001122764.3
p.R113R
c.339G>A
1 paper
NM_001122764.3
p.R113Splc
c.339-1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."