Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.I40F
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CASR

NM_000388.4:p.I40F

Associated Papers

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Tan RSG et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

Calcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1.

Cha SK et al.

The Journal of Biological Chemistry, 2011

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

Tao YX

Pharmacology & Therapeutics, 2006

Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.

Vargas-Poussou R et al.

Journal of the American Society of Nephrology : Jasn, 2002

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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."