Varaico: Literature-Extracted Genetic Variants

Gene:TRPV5
Variant:p.D542A
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TRPV5

NM_019841.7:p.D542A

Associated Papers

Structure-function analyses of human TRPV6 ancestral and derived haplotypes.

Neuberger A et al.

Structure (london, England : 1993), 2025

Calmodulin regulates TRPV5 intracellular trafficking and plasma membrane abundance.

Zuidscherwoude M et al.

The Journal of Physiology, 2024

Molecular details of ruthenium red pore block in TRPV channels.

Pumroy RA et al.

Embo Reports, 2024

A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.

van der Wijst J et al.

Scientific Reports, 2017

Molecular Modeling of the Structural and Dynamical Changes in Calcium Channel TRPV5 Induced by the African-Specific A563T Variation.

Wang L et al.

Biochemistry, 2016

Molecular mechanisms of calmodulin action on TRPV5 and modulation by parathyroid hormone.

de Groot T et al.

Molecular and Cellular Biology, 2011

The identification of Histidine 712 as a critical residue for constitutive TRPV5 internalization.

de Groot T et al.

The Journal of Biological Chemistry, 2010

The single pore residue Asp542 determines Ca2+ permeation and Mg2+ block of the epithelial Ca2+ channel.

Nilius B et al.

The Journal of Biological Chemistry, 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."