Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.P341insFs

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
5 papers
NM_001122764.3
p.P341insFs
c.1022_1023insG
Surrounding Variants
3 papers
NM_001122764.3
p.E339K
c.1015G>A
1 paper
NM_001122764.3
p.S338*
c.1013C>G
1 paper
NM_001122764.3
p.V347L
c.1039G>C
1 paper
NM_001122764.3
p.V335_P336insFs
c.1005_1006insC
2 papers
NM_001122764.3
p.V347A
c.1040T>C
6 papers
NM_001122764.3
p.V335G
c.1004T>G
2 papers
NM_001122764.3
p.Y348insFs
c.1042_1043insT
1 paper
NM_001122764.3
p.L334L
c.1002G>A
2 papers
NM_001122764.3
p.Y348insFs
c.1043_1044insT
5 papers
NM_001122764.3
p.Y348C
c.1043A>G
7 papers
NM_001122764.3
p.D349A
c.1046A>C
1 paper
NM_001122764.3
p.H333R
c.998A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."