Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.P1204L
Back to variants list

TRPM4

NM_017636.4:p.P1204L

Associated Papers

Persistent activation of TRPM4 triggers necrotic cell death characterized by sodium overload.

Fu W et al.

Nature Chemical Biology, 2025

Case Report: Loss-of-function TRPM4 mutation p.L91Δ implicated in progressive cardiac conduction defect.

Hämmerli AF et al.

Frontiers in Physiology, 2025

IMPACT OF ABCC8 AND TRPM4 GENETIC VARIATION IN CENTRAL NERVOUS SYSTEM DYSFUNCTION ASSOCIATED WITH PEDIATRIC SEPSIS.

Kernan KF et al.

Shock (augusta, Ga.), 2024

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Bajaj A et al.

Human Genomics, 2022

35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5

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

Downstream TRPM4 Polymorphisms Are Associated with Intracranial Hypertension and Statistically Interact with ABCC8 Polymorphisms in a Prospective Cohort of Severe Traumatic Brain Injury.

Jha RM et al.

Journal of Neurotrauma, 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 Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

Proost D et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.

Syam N et al.

Journal of the American Heart Association, 2016

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."