Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.K914R
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TRPM4

NM_017636.4:p.K914R

Associated Papers

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.

Palladino A et al.

Genes, 2022

Domain zipping and unzipping modulates TRPM4's properties in human cardiac conduction disease.

Xian W et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies.

Amarouch MY et al.

Cardiovascular Therapeutics, 2020

Molecular and genetic insights into progressive cardiac conduction disease.

Asatryan B et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2019

The S4---S5 linker - gearbox of TRP channel gating.

Hofmann L et al.

Cell Calcium, 2017

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-12.xlsx › S_Data_11

Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.

Stallmeyer B et al.

Human Mutation, 2012

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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."