Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.P1857L
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RYR2

NM_001035.3:p.P1857L

Associated Papers

RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.

Chang A et al.

Circulation. Arrhythmia and Electrophysiology, 2025

40875405 (PubMed )
Supplement: hae-18-e013757-s003.xlsx › patient_variants

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing.

Huang J et al.

Frontiers in Cardiovascular Medicine, 2022

35924220 (PubMed )
Supplement: Table_2.XLS › Supplementary_Table_2_2

Identification of potential candidate genes and pathways in atrioventricular nodal reentry tachycardia by whole-exome sequencing.

Luo R et al.

Clinical and Translational Medicine, 2020

Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.

Miyata K et al.

Internal Medicine (tokyo, Japan), 2018

29434162 (PubMed )
Supplement: 1349-7235-57-1813-s001.pdf

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Jiménez-Jáimez J et al.

The American Journal of Cardiology, 2015

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