The POR gene homepage

General information
Gene symbol POR
Gene name P450 (cytochrome) oxidoreductase
Chromosome 7
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_008930.1
Transcript reference NM_000941.2
Exon/intron information NM_000941.2 exon/intron table
Associated with diseases ABS-1, steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 253
Unique public DNA variants reported 114
Individuals with public variants 117
Hidden variants 7
Download all this gene's data Download all data
Notes POR reference haplotypes
Functional analysis variants
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 17, 2021
Version POR:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000941.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/POR
External URL Human Cytochrome P450 (CYP) Allele Nomenclature Committee
PharmGKB POR
HGNC 9208
Entrez Gene 5447
PubMed articles POR
OMIM - Gene 124015
OMIM - Diseases ABS-1 (Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS-1))
steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency
HGMD POR
GeneCards POR
GeneTests POR
Orphanet POR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016551 7 P450 (cytochrome) oxidoreductase NM_000941.2 NP_000932.3 253


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