LOVD ATP1A2 homepage

General information
Gene name ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
Gene symbol ATP1A2
Chromosome Location 1q21-q23
Database location grenada.lumc.nl
Curator Paola Carrera PhD and Stefania Battistini MD PhD
PubMed references View all (unique) PubMed references in the ATP1A2 database
Date of creation June 21, 2004
Last update July 20, 2012
Version ATP1A2 120720
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000001.10
Transcript refseq ID NM_000702.2
Total number of unique DNA variants reported 72
Total number of individuals with variant(s) 217
Total number of variants reported 217
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ATP1A2 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC 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 ATP1A2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ATP1A2 database
Variants with no known pathogenicity Listing of all ATP1A2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the ATP1A2 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 800
Entrez Gene 477
OMIM - Gene 182340
OMIM - Disease FHM2
HGMD ATP1A2
GeneTests ATP1A2
External link #1 Orphanet
External link #2 http://www.lrg-sequence.org/page.php?page=home

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