Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.S147A
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CASR

NM_000388.4:p.S147A

Associated Papers

Cryo-EM structure of the calcium-sensing receptor complexed with the kokumi substance γ-glutamyl-valyl-glycine.

Yamaguchi H et al.

Scientific Reports, 2025

Glutathione-Based Photoaffinity Probe Identifies Caffeine as a Positive Allosteric Modulator of the Calcium-Sensing Receptor.

Matarage Don NNJ et al.

Acs Chemical Biology, 2024

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

Ma S et al.

Communications Biology, 2024

38664468 (PubMed )
Supplement: 42003_2024_6189_MOESM3_ESM.xlsx › Figure_5

Upacicalcet Is a Novel Secondary Hyperparathyroidism Drug that Targets the Amino Acid Binding Site of Calcium-Sensing Receptor .

Sato H et al.

Molecular Pharmacology, 2022

Structural insights into the activation of human calcium-sensing receptor.

Chen X et al.

Elife, 2021

Structural mechanism of cooperative activation of the human calcium-sensing receptor by Ca2+ ions and L-tryptophan.

Ling S et al.

Cell Research, 2021

33603117 (PubMed )
Supplement: 41422_2021_474_MOESM18_ESM.pdf

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.

Majumdar SK et al.

Case Reports in Endocrinology, 2020

Investigating the molecular mechanism of positive and negative allosteric modulators in the calcium-sensing receptor dimer.

Jacobsen SE et al.

Scientific Reports, 2017

Structural mechanism of ligand activation in human calcium-sensing receptor.

Geng Y et al.

Elife, 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 for amino acid sensing by family C G-protein-coupled receptors.

Wellendorph P et al.

British Journal of Pharmacology, 2009

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

A double mutation in the extracellular Ca2+-sensing receptor's venus flytrap domain that selectively disables L-amino acid sensing.

Mun HC et al.

The Journal of Biological Chemistry, 2005

Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.

Tan YM et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Three adjacent serines in the extracellular domains of the CaR are required for L-amino acid-mediated potentiation of receptor function.

Zhang Z et al.

The Journal of Biological Chemistry, 2002

The agonist-binding domain of the calcium-sensing receptor is located at the amino-terminal domain.

Bräuner-Osborne H et al.

The Journal of Biological Chemistry, 1999

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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."