Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P823A
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CASR

NM_000388.4:p.P823A

Associated Papers

Molecular and clinical insights from studies of calcium-sensing receptor mutations.

Gorvin CM

Journal of Molecular Endocrinology, 2019

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

The calcium sensing receptor: from calcium sensing to signaling.

Zhang C et al.

Science China. Life Sciences, 2015

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

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."