Varaico: Literature-Extracted Genetic Variants

Gene:TRPV5
Variant:p.D188V
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TRPV5

NM_019841.7:p.D188V

Associated Papers

An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review.

Hilliard CB

Gene, 2023

Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.

Mitra P et al.

World Journal of Urology, 2020

Modeling the structural and dynamical changes of the epithelial calcium channel TRPV5 caused by the A563T variation based on the structure of TRPV6.

Wang L et al.

Journal of Biomolecular Structure & Dynamics, 2019

Unveiling the Distinct Mechanisms by which Disease-Causing Mutations in the Kelch Domain of KLHL3 Disrupt the Interaction with the Acidic Motif of WNK4 through Molecular Dynamics Simulation.

Wang L et al.

Biochemistry, 2019

Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers.

Liu J et al.

Molecular Genetics & Genomic Medicine, 2019

The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.

Wang L et al.

Biochemical and Biophysical Research Communications, 2017

Phosphorylation of KLHL3 at serine 433 impairs its interaction with the acidic motif of WNK4: a molecular dynamics study.

Wang L et al.

Protein Science : a Publication of the Protein Society, 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

A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients.

Khaleel A et al.

Mediators of Inflammation, 2015

TRPV5: a Ca(2+) channel for the fine-tuning of Ca(2+) reabsorption.

Na T et al.

Handbook of Experimental Pharmacology, 2014

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

Loh NY et al.

Plos One, 2013

Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?

Tsai HY et al.

Pediatric Nephrology (berlin, Germany), 2011

Derived (mutated)-types of TRPV6 channels elicit greater Ca²+ influx into the cells than ancestral-types of TRPV6: evidence from Xenopus oocytes and mammalian cell expression system.

Sudo Y et al.

Journal of Pharmacological Sciences, 2010

The A563T variation of the renal epithelial calcium channel TRPV5 among African Americans enhances calcium influx.

Na T et al.

American Journal of Physiology. Renal Physiology, 2009

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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."