Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G358R

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
11 papers
NM_001122764.3
p.G358R
c.1072G>C
Surrounding Variants
11 papers
NM_001122764.3
p.G358R
c.1072G>A
8 papers
NM_001122764.3
p.P361insFs
c.1082_1083insC
1 paper
NM_001122764.3
p.P361insFs
c.1082_1083insG
1 paper
NM_001122764.3
p.P361L
c.1082C>T
5 papers
NM_001122764.3
p.P361delFs
c.1083delT
2 papers
NM_001122764.3
p.P354L
c.1061C>T
5 papers
NM_001122764.3
p.P361_G362insFs
c.1083_1084insC
1 paper
NM_001122764.3
p.G362insFs
c.1084_1085insG
1 paper
NM_001122764.3
p.G362fs
c.1084_1085fs
2 papers
NM_001122764.3
p.G362fs
c.1084_1085fs
1 paper
NM_001122764.3
p.R364_V365delFs
c.1092_1093delAG
1 paper
NM_001122764.3
p.R364fs
c.1090_1091fs
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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."