Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G11A

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.G11A
c.32G>C
Surrounding Variants
3 papers
NM_001122764.3
p.G11D
c.32G>A
3 papers
NM_001122764.3
p.G11S
c.31G>A
1 paper
NM_001122764.3
p.G11delFs
c.32delG
11 papers
NM_001122764.3
p.I12T
c.35T>C
1 paper
NM_001122764.3
p.I12M
c.36C>G
1 paper
NM_001122764.3
p.G10R
c.28G>A
1 paper
NM_001122764.3
p.G10fs
c.28_29fs
1 paper
NM_001122764.3
p.S13N
c.38G>A
1 paper
NM_001122764.3
p.G9A
c.26G>C
1 paper
NM_001122764.3
p.S13T
c.38G>C
2 papers
NM_001122764.3
p.G14S
c.40G>A
2 papers
NM_001122764.3
p.G14R
c.40G>C
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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."