Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.F821L
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CASR

NM_000388.4:p.F821L

Associated Papers

A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.

Conigrave AD et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

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

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

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

He F et al.

Nature, 2024

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

Sastre A et al.

The New England Journal of Medicine, 2021

Asymmetric activation of the calcium-sensing receptor homodimer.

Gao Y et al.

Nature, 2021

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

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

Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).

Dong B et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.

Thim SB et al.

Acta Paediatrica (oslo, Norway : 1992), 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

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

Leach K et al.

Endocrinology, 2012

Activation switch in the transmembrane domain of metabotropic glutamate receptor.

Yanagawa M et al.

Molecular Pharmacology, 2009

Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor.

Shiohara M et al.

Endocrine Journal, 2006

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

A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.

Shiohara M et al.

European Journal of Pediatrics, 2004

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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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."