Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.I130M
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TRIM63

NM_032588.4:p.I130M

Associated Papers

Autosomal recessive hypertrophic cardiomyopathy associated with variants in TRIM63.

Bonanni F et al.

International Journal of Cardiology, 2026

Coiled-coil-domain-mediated TRIM E3 protein condensation modulates enzymatic activity and functional specificity.

Chen Q et al.

Cell Reports, 2025

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

Chunthorng-Orn J et al.

International Journal of Molecular Sciences, 2025

TRIM22 functions as a scaffold protein for autophagy initiation.

Park H et al.

Animal Cells and Systems, 2025

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

Andreeva S et al.

Frontiers in Genetics, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Al-Shafai KN et al.

Molecular Genetics & Genomic Medicine, 2021

34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s001.pdf

Prioritizing causal disease genes using unbiased genomic features.

Deo RC et al.

Genome Biology, 2014

25633252 (PubMed )
Supplement: 13059_2014_534_MOESM48_ESM.xlsx › Sheet1

The role of ubiquitin ligases in cardiac disease.

Willis MS et al.

Journal of Molecular and Cellular Cardiology, 2014

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6

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

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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."