Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.C131F
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CASR

NM_000388.4:p.C131F

Associated Papers

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

A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection.

Suzuki M et al.

Clinical Nephrology, 2005

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

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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."