The EPOR gene homepage

General information
Gene symbol EPOR
Gene name erythropoietin receptor
Chromosome 19
Chromosomal band p13.3-p13.2
Imprinted Unknown
Genomic reference NG_021395.1
Transcript reference NM_000121.3
Exon/intron information NM_000121.3 exon/intron table
Associated with diseases ECYT1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Celeste Bento and Mary Frances McMullin
Total number of public variants reported 25
Unique public DNA variants reported 19
Individuals with public variants 83
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated November 01, 2022
Version EPOR:221101

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_000121.3.
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
External URL Erythrocytosis
HGNC 3416
Entrez Gene 2057
PubMed articles EPOR
OMIM - Gene 133171
OMIM - Diseases ECYT1 (erythrocytosis, familial, type 1 (ECYT-1))
GeneCards EPOR
GeneTests EPOR
Orphanet EPOR

Active transcripts




NCBI ID     

NCBI Protein ID     

00007181 19 transcript variant 1 NM_000121.3 NP_000112.1 25

Copyright & disclaimer
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