Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.A824S
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CASR

NM_000388.4:p.A824S

Associated Papers

Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.

Bircan A et al.

Plos Computational Biology, 2024

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

Activation switch in the transmembrane domain of metabotropic glutamate receptor.

Yanagawa M et al.

Molecular Pharmacology, 2009

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

Inherited endocrine diseases involving G proteins and G protein-coupled receptors.

Spiegel AM

Endocrine Development, 2007

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

[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].

Fukumoto S

Clinical Calcium, 2001

Activating mutations of the calcium-sensing receptor: management of hypocalcemia.

Lienhardt A et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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."