EPAS1 homepage - The Globin Gene Server - Leiden Open Variation Database

The Globin Gene Server

endothelial PAS domain protein 1 (EPAS1)

LOVD v.2.0 Build 38 [ Current LOVD status ]
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Curators: Belinda Giardine and Joseph Borg

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
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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