Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_001122764.3
p.M1I
c.3G>C
3 papers
NM_001122764.3
p.M1_G2insFs
c.3_4insT
3 papers
NM_001122764.3
p.M1T
c.2T>C
1 paper
NM_001122764.3
p.M1insFs
c.2dupT
1 paper
NM_001122764.3
p.M1L
c.1A>C
1 paper
NM_001122764.3
p.M1V
c.1A>G
1 paper
NM_001122764.3
p.M1L
c.1A>T
1 paper
NM_001122764.3
p.V7delFs
c.21delG
1 paper
NM_001122764.3
p.L8Q
c.23T>A
1 paper
NM_001122764.3
p.G9A
c.26G>C
1 paper
NM_001122764.3
p.G10R
c.28G>A
1 paper
NM_001122764.3
p.G10fs
c.28_29fs
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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."