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




NCBI ID     

NCBI Protein ID     

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

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