Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.A48V
Back to variants list

TRIM63

NM_032588.4:p.A48V

Associated Papers

Autosomal recessive hypertrophic cardiomyopathy associated with variants in TRIM63.

Bonanni F et al.

International Journal of Cardiology, 2026

HCM-Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure.

Chunthorng-Orn J et al.

International Journal of Molecular Sciences, 2025

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1.

Haouari S et al.

International Journal of Molecular Sciences, 2023

Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant.

Andreeva S et al.

Frontiers in Genetics, 2022

Proteasome dysfunction in cardiomyopathies.

Gilda JE et al.

The Journal of Physiology, 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

The role of ubiquitin ligases in cardiac disease.

Willis MS et al.

Journal of Molecular and Cellular Cardiology, 2014

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

Human molecular genetic and functional studies identify TRIM63, encoding Muscle RING Finger Protein 1, as a novel gene for human hypertrophic cardiomyopathy.

Chen SN et al.

Circulation Research, 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."