Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.L277L

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.L277L
c.831G>A
Surrounding Variants
1 paper
NM_001122764.3
p.H281del1
c.841_842delCAC
3 papers
NM_001122764.3
p.V282D
c.845T>A
2 papers
NM_001122764.3
p.I283N
c.848T>A
1 paper
NM_001122764.3
p.I283T
c.848T>C
2 papers
NM_001122764.3
p.S284I
c.851G>T
1 paper
NM_001122764.3
p.A285T
c.853G>A
2 papers
NM_001122764.3
p.V270L
c.808G>C
3 papers
NM_001122764.3
p.V270L
c.808G>T
1 paper
NM_001122764.3
p.V270fs
c.808_809fs
1 paper
NM_001122764.3
p.I286delFs
c.856delA
2 papers
NM_001122764.3
p.K269_V270Splc
c.808-1G>C
3 papers
NM_001122764.3
p.K269_V270Splc
c.808-9T>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."