CASR gene homepage

General information
Gene symbol CASR
Gene name calcium-sensing receptor
Chromosome 3
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_009058.1
Transcript reference NM_000388.3
Associated with diseases EIG-8, HHC-1, NSHPT, Hypocalcemia, autosomal dominant, Hypocalcemia, autosomal dominant 1, Hypocalcemia, autosomal dominant, with Bartter syndrome
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 400
Unique public DNA variants reported 278
Individuals with public variants 341
Hidden variants 0
Date created May 03, 2013
Date last updated November 09, 2018
Version CASR:181109

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 1514
Entrez Gene 846
PubMed articles CASR
OMIM - Gene 601199
OMIM - Diseases EIG-8 (epilepsy, idiopathic, generalized, susceptibility to, type 8 (EIG-8))
HHC-1 (Hypocalciuric hypercalcemia, type I (HHC-1))
NSHPT (hyperparathyroidism, severe, neonatal (NSHPT))
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant 1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004393 3 transcript variant 2 NM_000388.3 NP_000379.2 400


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.