Variant: rs121909264 

    present in Gene: CASR
    present in Chromosome: 3
    Position on Chromosome: 122257323
    Alleles of this Variant: G/A

rs121909264 in CASR gene and Hypocalciuric hypercalcemia, familial, type 1 PMID 27434672 2016 Structural mechanism of ligand activation in human calcium-sensing receptor.

PMID 9298824 1997 A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.

PMID 8636323 1996 Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

PMID 8878438 1996 Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

PMID 7673400 1995 Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.

PMID 21643651 2012 Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

PMID 21566075 2011 A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.

PMID 11762699 2001 A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.

PMID 19789209 2009 A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

PMID 17698911 2007 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.

PMID 22114145 2011 Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude.

PMID 17473068 2007 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.

PMID 25292184 2014 A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.

PMID 7916660 1993 Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

PMID 15572418 2005 Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.

PMID 16740594 2006 Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

PMID 23966241 2013 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.

PMID 26386835 2016 Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

PMID 25104082 2014 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.

PMID 15879434 2005 Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.

rs121909264 in CASR gene and Hypoparathyroidism PMID 7726161 1995 Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

rs121909264 in CASR gene and Serum calcium increased PMID 7726161 1995 Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.