ATP2C1 gene homepage

General information
Gene symbol ATP2C1
Gene name ATPase, Ca++ transporting, type 2C, member 1
Chromosome 3
Chromosomal band q21.3
Imprinted Unknown
Genomic reference NG_007379.1
Transcript reference NM_001001486.1
Exon/intron information NM_001001486.1 exon/intron table
Associated with diseases BCPM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Michel van Geel
Total number of public variants reported 236
Unique public DNA variants reported 179
Individuals with public variants 293
Hidden variants 0
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 December 08, 2017
Version ATP2C1:171208

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_001001486.1.
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 http://www.LOVD.nl/ATP2C1
External URL Orphanet
HGNC 13211
Entrez Gene 27032
PubMed articles ATP2C1
OMIM - Gene 604384
OMIM - Diseases BCPM (HHD)
HGMD ATP2C1
GeneCards ATP2C1
GeneTests ATP2C1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003073 3 transcript variant 4 NM_001001486.1 NP_001001486.1 236


Copyright & disclaimer
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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.