Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. 26386835

2016
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672

2016
dbSNP: rs1276839362
rs1276839362
CASR
0.700 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: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. 25292184

2014
dbSNP: rs1276839362
rs1276839362
CASR
0.700 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: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. 21643651

2012
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude. 22114145

2011
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia. 21566075

2011
dbSNP: rs1276839362
rs1276839362
CASR
0.700 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
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. 17698911

2007
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. 17473068

2007
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT To address this issue, we have analyzed wild-type and mutant CASRs harboring R66H, R66C or N583X-inactivating mutations identified in familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroid patients, which were transiently expressed in kidney cells. 16740594

2006
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. 15572418

2005
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. 15879434

2005
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. 11762699

2001
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. 9298824

1997
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. 8636323

1996
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. 8878438

1996
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. 7673400

1995
dbSNP: rs1276839362
rs1276839362
CASR
0.700 GeneticVariation UNIPROT Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 7916660

1993