Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.G778D
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CASR

NM_000388.4:p.G778D

Associated Papers

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

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

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

Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.

Ward BK et al.

Clinical Endocrinology, 2006

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."