Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R896H
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CASR

NM_000388.4:p.R896H

Associated Papers

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Chang JB et al.

American Journal of Human Genetics, 2025

40664210 (PubMed )
Supplement: mmc2.xlsx › Table_S8_AOU_variants

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

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

14-3-3 Proteins Buffer Intracellular Calcium Sensing Receptors to Constrain Signaling.

Grant MP et al.

Plos One, 2015

Roles of the calcium sensing receptor in digestive physiology and pathophysiology (review).

Xie R et al.

International Journal of Oncology, 2014

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.

Hannan FM et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2013

Genetics of pancreatitis.

LaRusch J et al.

Current Opinion in Gastroenterology, 2011

Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.

Stepanchick A et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2010

Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?

Felderbauer P et al.

Scandinavian Journal of Gastroenterology, 2006

Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.

Hu J et al.

Journal of Cellular and Molecular Medicine, 0

[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.]

Michigami T

Clinical Calcium, 0

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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."