Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P798T
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CASR

NM_000388.4:p.P798T

Associated Papers

Cell Surface Calcium-Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca2+ Sensing but Not G Protein Interaction.

Goolam MA et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

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

Tan RSG et al.

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

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 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan FM et al.

Human Molecular Genetics, 2012

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

White E et al.

Molecular Endocrinology (baltimore, Md.), 2009

Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical 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."