Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.S45delFs

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.S45delFs
c.133delT
Surrounding Variants
1 paper
NM_001122764.3
p.R47Q
c.140G>A
1 paper
NM_001122764.3
p.W42R
c.124T>A
1 paper
NM_001122764.3
p.W42R
c.124T>C
1 paper
NM_001122764.3
p.G48A
c.143G>C
1 paper
NM_001122764.3
p.G41C
c.121G>T
4 papers
NM_001122764.3
p.G40E
c.119G>A
3 papers
NM_001122764.3
p.G40A
c.119G>C
5 papers
NM_001122764.3
p.R38P
c.113G>C
4 papers
NM_001122764.3
p.E55_L56insFs
c.165_166insAG
3 papers
NM_001122764.3
p.E34V
c.101A>T
1 paper
NM_001122764.3
p.E55A
c.164A>C
1 paper
NM_001122764.3
p.L56F
c.166C>T
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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."