Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.L123S
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CASR

NM_000388.4:p.L123S

Associated Papers

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

Nanobodies as negative allosteric modulators for human calcium sensing receptor.

Cui Q et al.

Biochemical and Biophysical Research Communications, 2024

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.

Wu Y et al.

The Journal of International Medical Research, 2022

35818129 (PubMed )
Supplement: sj-pdf-1-imr-10.1177_03000605221110489.pdf

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Elston MS et al.

Journal of the Endocrine Society, 2022

A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy.

Festas Silva D et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2021

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

Tan RSG et al.

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

Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1.

Papadopoulou A et al.

Hormones (athens, Greece), 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.

Regala J et al.

Journal of Pediatric Genetics, 2015

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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."