LOVD EPAS1 homepage

General information
Gene name endothelial PAS domain protein 1
Gene symbol EPAS1
Chromosome Location 2p21-p16
Database location lovd.bx.psu.edu
Curator Belinda Giardine and Joseph Borg
PubMed references View all (unique) PubMed references in the EPAS1 database
Date of creation July 02, 2010
Last update July 07, 2010
Version EPAS1 100707
Add sequence variant Submit a sequence variant
First time submitters Register here
Genomic refseq ID NG_016000.1
Transcript refseq ID NM_001430.4
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 1
Total number of variants reported 1
Subscribe to updates of this gene

Graphical displays and utilities
Summary tables Summary of all sequence variants in the EPAS1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
PSU Genome Browser Show variants in the PSU Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the EPAS1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the EPAS1 database
Variants with no known pathogenicity Listing of all EPAS1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the EPAS1 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 3374
Entrez Gene 2034
OMIM - Gene 603349
UniProtKB (SwissProt/TrEMBL) Q99814
External link HbVar