Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P221Q
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CASR

NM_000388.4:p.P221Q

Associated Papers

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

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency.

Tsuji T et al.

Journal of the Endocrine Society, 2021

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

Kim ES et al.

Journal of Bone and Mineral Metabolism, 2016

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

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

Zhang C et al.

Frontiers in Physiology, 2016

Role of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations.

Zhang C et al.

Plos One, 2014

The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites.

Hendy GN et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 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 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

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.

Nissen PH et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."