Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.S148N

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.S148N
c.443G>A
Surrounding Variants
1 paper
NM_001122764.3
p.H147fs
c.439_440fs
1 paper
NM_001122764.3
p.H147delFs
c.439_440delCA
1 paper
NM_001122764.3
p.Q151*
c.451C>T
2 papers
NM_001122764.3
p.T145I
c.434C>T
14 papers
NM_001122764.3
p.R152C
c.454C>T
1 paper
NM_001122764.3
p.R152H
c.455G>A
1 paper
NM_001122764.3
p.E144K
c.430G>A
1 paper
NM_001122764.3
p.D143G
c.428A>G
3 papers
NM_001122764.3
p.D143V
c.428A>T
6 papers
NM_001122764.3
p.L154P
c.461T>C
1 paper
NM_001122764.3
p.P142S
c.424C>T
1 paper
NM_001122764.3
p.G155R
c.463G>A
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