Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.Q854R
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TRPM4

NM_017636.4:p.Q854R

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

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.

Merc MD et al.

Prenatal Diagnosis, 2024

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Sarquella-Brugada G et al.

Human Genetics, 2022

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

Palladino A et al.

Genes, 2022

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

Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability.

Bianchi B et al.

Frontiers in Physiology, 2018

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.

Daumy X et al.

International Journal of Cardiology, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.

Liu H et al.

Plos One, 2013

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."