Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.Q27E
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CASR

NM_000388.4:p.Q27E

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

39658204 (PubMed )
Supplement: revised_supplementary_appendix_clean_zjae199.docx

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

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

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

Wen T et al.

Science Advances, 2021

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Gorvin CM et al.

Human Molecular Genetics, 2018

G protein-coupled receptor pharmacogenetics.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targets.

Insel PA et al.

Biochimica Et Biophysica Acta, 2007

The G protein-coupled receptors: pharmacogenetics and disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

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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."