Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.E127K
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CASR

NM_000388.4:p.E127K

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: mmc1.pdf

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

Recombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.

Hawkes CP et al.

European Journal of Endocrinology, 2020

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.

Thim SB et al.

Acta Paediatrica (oslo, Norway : 1992), 2014

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].

Fukumoto S

Clinical Calcium, 2001

Activating mutations of the calcium-sensing receptor: management of hypocalcemia.

Lienhardt A et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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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."