Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.C131S
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CASR

NM_000388.4:p.C131S

Associated Papers

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

Ma S et al.

Communications Biology, 2024

Nanobodies as negative allosteric modulators for human calcium sensing receptor.

Cui Q et al.

Biochemical and Biophysical Research Communications, 2024

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Tan RSG et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

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

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

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

Modulation of interprotomer relationships is important for activation of dimeric calcium-sensing receptor.

Jiang Y et al.

The Journal of Biological Chemistry, 2004

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

Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca(2+) receptor critical for dimerization. Implications for function of monomeric Ca(2+) receptor.

Ray K et al.

The Journal of Biological Chemistry, 1999

Dimerization of the calcium-sensing receptor occurs within the extracellular domain and is eliminated by Cys --> Ser mutations at Cys101 and Cys236.

Pace AJ et al.

The Journal of Biological Chemistry, 1999

Mutational analysis of the cysteines in the extracellular domain of the human Ca2+ receptor: effects on cell surface expression, dimerization and signal transduction.

Fan GF et al.

Febs Letters, 1998

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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."