Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.E297D
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CASR

NM_000388.4:p.E297D

Associated Papers

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

Absence of calcium-sensing receptor basal activity due to inter-subunit disulfide bridges.

Ma S et al.

Communications Biology, 2024

Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.

Wen T et al.

Science Advances, 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

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

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

Livadariu E et al.

European Journal of Endocrinology, 2011

Molecular basis for amino acid sensing by family C G-protein-coupled receptors.

Wellendorph P et al.

British Journal of Pharmacology, 2009

The calcium-sensing receptor and related diseases.

D'Souza-Li L

Arquivos Brasileiros De Endocrinologia E Metabologia, 2006

Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor.

Silve C et al.

The Journal of Biological Chemistry, 2005

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

[The functions of calcium-sensing receptor in regulating mineral metabolism.]

Kinoshita Y

Clinical Calcium, 0

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