Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.V817I
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CASR

NM_000388.4:p.V817I

Associated Papers

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.

Ulloa-Aguirre A et al.

Frontiers in Endocrinology, 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

Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.

Zhang C et al.

Frontiers in Physiology, 2016

Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.

White E et al.

Molecular Endocrinology (baltimore, Md.), 2009

Inherited endocrine diseases involving G proteins and G protein-coupled receptors.

Spiegel AM

Endocrine Development, 2007

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+.

Hu J et al.

The Journal of Biological Chemistry, 2005

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Watanabe S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.

Nakayama T et al.

Endocrine, 2001

Extracellular calcium-sensing receptor: structural and functional features and association with diseases.

Hauache OM

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2001

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Hendy GN et al.

Human Mutation, 2000

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

Pearce SH et al.

The Journal of Clinical Investigation, 1996

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Pearce SH et al.

The Journal of Clinical Investigation, 1995

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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."