Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.Q40L
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ACTN2

NM_001103.4:p.Q40L

Associated Papers

Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.

Noureddine M et al.

The Journal of General Physiology, 2025

Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.

Atang AE et al.

Biochemical and Biophysical Research Communications, 2023

Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.

Fan LL et al.

Cytogenetic and Genome Research, 2019

Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation.

Haywood NJ et al.

The Biochemical Journal, 2016

The actinin family of actin cross-linking proteins - a genetic perspective.

Murphy AC et al.

Cell & Bioscience, 2015

26312134 (PubMed )
Supplement: 13578_2015_29_MOESM1_ESM.pdf
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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."