Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.C167Y

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.C167Y
c.500G>A
Surrounding Variants
1 paper
NM_001122764.3
p.C167S
c.500G>C
16 papers
NM_001122764.3
p.R168C
c.502C>T
21 papers
NM_001122764.3
p.R168H
c.503G>A
1 paper
NM_001122764.3
p.R168L
c.503G>T
1 paper
NM_001122764.3
p.G169R
c.505G>A
7 papers
NM_001122764.3
p.G169E
c.506G>A
3 papers
NM_001122764.3
p.G169A
c.506G>C
1 paper
NM_001122764.3
p.D164A
c.491A>C
1 paper
NM_001122764.3
p.V170A
c.509T>C
1 paper
NM_001122764.3
p.A172S
c.514G>T
3 papers
NM_001122764.3
p.A172V
c.515C>T
1 paper
NM_001122764.3
p.L161R
c.482T>G
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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."