Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.H88Y
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ACTB

NM_001101.5:p.H88Y

Associated Papers

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

Asp56 in actin is critical for the full activity of the amino acid starvation-responsive kinase Gcn2.

Ramesh R et al.

Febs Letters, 2021

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

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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."