Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.F832S
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CASR

NM_000388.4:p.F832S

Associated Papers

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Chang JB et al.

American Journal of Human Genetics, 2025

40664210 (PubMed )
Supplement: mmc1.pdf

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Allosteric modulation and G-protein selectivity of the Ca2+-sensing receptor.

He F et al.

Nature, 2024

Recombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.

Hawkes CP et al.

European Journal of Endocrinology, 2020

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.

Mayr B et al.

European Journal of Endocrinology, 2016

Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.

Zhang C et al.

Frontiers in Physiology, 2016

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

Li D et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Impact of clinically relevant mutations on the pharmacoregulation and signaling bias of the calcium-sensing receptor by positive and negative allosteric modulators.

Leach K et al.

Endocrinology, 2013

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Lia-Baldini AS et al.

European Journal of Endocrinology, 2013

Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.

Leach K et al.

Endocrinology, 2012

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan FM et al.

Human Molecular Genetics, 2012

Activation switch in the transmembrane domain of metabotropic glutamate receptor.

Yanagawa M et al.

Molecular Pharmacology, 2009

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Cole DE et al.

Journal of Molecular Endocrinology, 2009

Inherited endocrine diseases involving G proteins and G protein-coupled receptors.

Spiegel AM

Endocrine Development, 2007

A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+.

Hu J et al.

The Journal of Biological Chemistry, 2005

[Familial hypoparathyroidism due to activating mutations in the calcium-sensing receptor gene].

Watanabe T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].

Fukumoto S

Clinical Calcium, 2001

Activating mutations of the calcium-sensing receptor: management of hypocalcemia.

Lienhardt A et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.

Hu J et al.

Journal of Cellular and Molecular Medicine, 0

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