Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R680G
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CASR

NM_000388.4:p.R680G

Associated Papers

An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.

Benson MR et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.

Zhang R et al.

Frontiers in Genetics, 2025

Ca2+-sensing receptor-TRP channel-mediated Ca2+ signaling: Functional diversity and pharmacological complexity.

Wu KC et al.

European Journal of Pharmacology, 2024

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

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

Tan RSG et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.

Wen T et al.

Science Advances, 2021

Calcium-sensing receptor signaling - How human disease informs biology.

Gorvin CM

Current Opinion in Endocrine and Metabolic Research, 2021

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

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

Gorvin CM

Journal of Molecular Endocrinology, 2019

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM et al.

Nature Reviews. Endocrinology, 2018

Insights into calcium-sensing receptor trafficking and biased signalling by studies of calcium homeostasis.

Gorvin CM

Journal of Molecular Endocrinology, 2018

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.

Gorvin CM et al.

Science Signaling, 2018

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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."