Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.C129Y
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CASR

NM_000388.4:p.C129Y

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

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

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Absence of calcium-sensing receptor basal activity due to inter-subunit disulfide bridges.

Ma S et al.

Communications Biology, 2024

38664468 (PubMed )
Supplement: 42003_2024_6189_MOESM3_ESM.xlsx › Figure_4

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

Structural basis for regulation of human calcium-sensing receptor by magnesium ions and an unexpected tryptophan derivative co-agonist.

Zhang C et al.

Science Advances, 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

Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.

Schouten BJ et al.

Annals of Clinical Biochemistry, 2011

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.

Burren CP et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

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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."