Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.A804D
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CASR

NM_000388.4:p.A804D

Associated Papers

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

Impact of clinically relevant mutations on the pharmacoregulation and signaling bias of the calcium-sensing receptor by positive and negative allosteric modulators.

Leach K et al.

Endocrinology, 2013

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

Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.

Grant MP et al.

Molecular Endocrinology (baltimore, Md.), 2012

Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.

Leach K et al.

Endocrinology, 2012

Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.

White E et al.

Molecular Endocrinology (baltimore, Md.), 2009

Identification and functional analysis of a novel inactivating mutation (A804D) of the calcium-sensing receptor gene.

Miyashiro K et al.

Clinical Endocrinology, 2004

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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."