Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E259V
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ACTG1

NM_001614.5:p.E259V

Associated Papers

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

Ramesh R et al.

Febs Letters, 2021

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

Costa CF et al.

Journal of Cell Science, 2004

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Agrawal PB et al.

Annals of Neurology, 2004

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Sparrow JC et al.

Neuromuscular Disorders : Nmd, 2003

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ et al.

Nature Genetics, 1999

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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."