Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.F809L
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CASR

NM_000388.4:p.F809L

Associated Papers

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Promiscuous G-protein activation by the calcium-sensing receptor.

Zuo H et al.

Nature, 2024

Allosteric modulation and G-protein selectivity of the Ca2+-sensing receptor.

He F et al.

Nature, 2024

Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia.

Mullin BH et al.

Journal of the Endocrine Society, 2022

Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.

Bernardor J et al.

Frontiers in Pediatrics, 2022

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

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Lia-Baldini AS et al.

European Journal of Endocrinology, 2013

Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series.

Rasmussen AQ et al.

Journal of Medical Case Reports, 2011

Inherited disorders of calcium homeostasis.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a de novo inactivating mutation of the calcium-sensing receptor.

Timmers HJ et al.

Journal of Internal Medicine, 2006

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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."