Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.P185R

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.P185R
c.554C>G
Surrounding Variants
1 paper
NM_001122764.3
p.L187L
c.561C>T
1 paper
NM_001122764.3
p.Q189delFs
c.565delC
6 papers
NM_001122764.3
p.Q189*
c.565C>T
1 paper
NM_001122764.3
p.A190V
c.569C>T
1 paper
NM_001122764.3
p.I180delFs
c.538_539delAT
1 paper
NM_001122764.3
p.E191*
c.571G>T
1 paper
NM_001122764.3
p.Q192*
c.574C>T
4 papers
NM_001122764.3
p.L178V
c.532C>G
1 paper
NM_001122764.3
p.E177A
c.530A>C
1 paper
NM_001122764.3
p.E177insFs
c.529_530insT
1 paper
NM_001122764.3
p.R176L
c.527G>T
2 papers
NM_001122764.3
p.R195C
c.583C>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."