Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R95C
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ACTB

NM_001101.5:p.R95C

Associated Papers

Genetic and immunohistochemical studies identify recurrent ACTB mutations and PTEN alterations in tubular adenomas of the breast.

Ingyin H et al.

Histopathology, 2025

The immediate effect of HCM causing actin mutants E99K and A230V on actin-Tm-myosin interaction in thin-filament reconstituted myocardium.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2015

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

Nalbandian A et al.

Journal of Molecular Neuroscience : Mn, 2011

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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."