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 ECYT-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Celeste Bento and Mary Frances McMullin
Total number of public variants reported 24
Unique public DNA variants reported 18
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 July 15, 2020
Version EPOR:200715

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 https://www.LOVD.nl/EPOR
External URL Orphanet
Erythrocytosis
HGNC 3416
Entrez Gene 2057
PubMed articles EPOR
OMIM - Gene 133171
OMIM - Diseases ECYT-1 (erythrocytosis, familial, type 1 (ECYT-1))
HGMD EPOR
GeneCards EPOR
GeneTests EPOR
Orphanet EPOR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007181 19 transcript variant 1 NM_000121.3 NP_000112.1 24


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.