Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.I200del1
Back to variants list

CASR

NM_000388.4:p.I200del1

Associated Papers

Loss-of-function Thr347Ala Variant in the G Protein Subunit-Α11 Causes Familial Hypocalciuric Hypercalcemia 2.

Boisen IM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.

Papadopoulou A et al.

Genes, 2021

[A series of clinical cases of familial hypocalciuric hypercalcemia syndrome].

Krupinova JA et al.

Problemy Endokrinologii, 2020

International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.

Leach K et al.

Pharmacological Reviews, 2020

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

Hannan FM et al.

Nature Reviews. Endocrinology, 2018

Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.

Hannan FM et al.

British Journal of Pharmacology, 2018

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA et al.

Jci Insight, 2017

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."