Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E334K
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ACTG1

NM_001614.5:p.E334K

Associated Papers

The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins.

Greve JN et al.

Elife, 2024

Cardiac myosin-binding protein C N-terminal interactions with myosin and actin filaments: Opposite effects of phosphorylation and M-domain mutations.

Wong FL et al.

Journal of Molecular and Cellular Cardiology, 2024

A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin.

Bunch TA et al.

The Journal of General Physiology, 2021

The binding of mutant actins to profilin, ATP and DNase I.

Drummond DR et al.

European Journal of Biochemistry, 1992

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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."