The ATP1A3 gene homepage

General information
Gene symbol ATP1A3
Gene name ATPase, Na+/K+ transporting, alpha 3 polypeptide
Chromosome 19
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_008015.1
Transcript reference NM_152296.4
Exon/intron information NM_152296.4 exon/intron table
Associated with diseases AHC2, CAPOS, DYT12
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 289
Unique public DNA variants reported 145
Individuals with public variants 224
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated January 11, 2023
Version ATP1A3:230111

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_152296.4.
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
HGNC 801
Entrez Gene 478
PubMed articles ATP1A3
OMIM - Gene 182350
OMIM - Diseases AHC2 (hemiplegia, alternating, of childhood, type 2 (AHC2))
CAPOS (CAPOS syndrome (CAPOS))
DYT12 (dystonia, type 12 (DYT-12))
GeneCards ATP1A3
GeneTests ATP1A3
Orphanet ATP1A3

Active transcripts




NCBI ID     

NCBI Protein ID     

00003060 19 transcript variant 1 NM_152296.4 NP_689509.1 289

Copyright & disclaimer
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