Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.V914A
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RBM20

NM_001134363.3:p.V914A

Associated Papers

Profiling of RBM20-Regulated CaMKIIδ Splice Variants Across the Heart, Skeletal Muscle, and Olfactory Bulbs.

Maeda Y et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025

Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.

Gregorich ZR et al.

Circulation. Genomic and Precision Medicine, 2024

Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.

Kornienko J et al.

Nature Communications, 2023

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.

Reichart D et al.

Science (new York, N.y.), 2022

35926050 (PubMed )
Supplement: NIHMS1835045-supplement-Supp__table_1.xlsx › disease_samples

RBM20-Related Cardiomyopathy: Current Understanding and Future Options.

Koelemen J et al.

Journal of Clinical Medicine, 2021

Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.

Jordà P et al.

Journal of Personalized Medicine, 2021

Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.

Sielemann K et al.

Genes, 2020

33260757 (PubMed )
Supplement: genes-11-01430-s001.zip › genes-997621-SI › File_S1.pdf

Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.

Gaertner A et al.

Human Mutation, 2020

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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."