Gene: CASR ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672

2016
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. 26386835

2016
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. 26386835

2016
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672

2016
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 26161261

2015
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation. 25091521

2015
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. 25292184

2014
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. 25104082

2014
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. 24203066

2014
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. 25104082

2014
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. 25292184

2014
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143. 23966241

2013
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143. 23966241

2013
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. 21643651

2012
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor. 22798347

2012
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. 22422767

2012
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. 21643651

2012
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet. 21289269

2011
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia. 21566075

2011
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude. 22114145

2011
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude. 22114145

2011
dbSNP: rs121909262
rs121909262
CASR
0.810 GeneticVariation UNIPROT A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia. 21566075

2011
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. 18751724

2009
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor. 19759318

2009
dbSNP: rs104893689
rs104893689
CASR
0.810 GeneticVariation UNIPROT A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. 19789209

2009