Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.A331P
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ACTB

NM_001101.5:p.A331P

Associated Papers

Cryo-EM structures of cardiac muscle α-actin mutants M305L and A331P give insights into the structural mechanisms of hypertrophic cardiomyopathy.

Huang HL et al.

European Journal of Cell Biology, 2024

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

Actin binding proteins: regulation of cytoskeletal microfilaments.

dos Remedios CG et al.

Physiological Reviews, 2003

Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations.

Wong WW et al.

Journal of Muscle Research and Cell Motility, 2001

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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."