Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.V347A

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
2 papers
NM_001122764.3
p.V347A
c.1040T>C
Surrounding Variants
1 paper
NM_001122764.3
p.V347L
c.1039G>C
2 papers
NM_001122764.3
p.Y348insFs
c.1042_1043insT
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
3 papers
NM_001122764.3
p.S350P
c.1048T>C
1 paper
NM_001122764.3
p.A352T
c.1054G>A
1 paper
NM_001122764.3
p.A352insFs
c.1054_1055insT
5 papers
NM_001122764.3
p.P341insFs
c.1022_1023insG
2 papers
NM_001122764.3
p.P354L
c.1061C>T
3 papers
NM_001122764.3
p.E339K
c.1015G>A
1 paper
NM_001122764.3
p.S338*
c.1013C>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."