Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.R59W

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
76 papers
NM_001122764.3
p.R59W
c.175C>T
Surrounding Variants
2 papers
NM_001122764.3
p.R59G
c.175C>G
3 papers
NM_001122764.3
p.R59Q
c.176G>A
1 paper
NM_001122764.3
p.G60R
c.178G>A
1 paper
NM_001122764.3
p.I61insFs
c.182dupT
6 papers
NM_001122764.3
p.G57R
c.169G>A
3 papers
NM_001122764.3
p.G57R
c.169G>C
1 paper
NM_001122764.3
p.L56F
c.166C>T
1 paper
NM_001122764.3
p.E55A
c.164A>C
4 papers
NM_001122764.3
p.E55_L56insFs
c.165_166insAG
2 papers
NM_001122764.3
p.L67delFs
c.199delC
2 papers
NM_001122764.3
p.A66V
c.197C>T
1 paper
NM_001122764.3
p.L67insFs
c.200_201insT
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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."