Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E99A
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ACTG1

NM_001614.5:p.E99A

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

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

Bookwalter CS et al.

The Journal of Biological Chemistry, 2006

Genetic and functional relationship between Rvsp, myosin and actin in Saccharomyces cerevisiae.

Breton AM et al.

Current Genetics, 1998

Role of charged amino acid pairs in subdomain-1 of actin in interactions with myosin.

Miller CJ et al.

Biochemistry, 1995

Actin mutations that show suppression with fimbrin mutations identify a likely fimbrin-binding site on actin.

Honts JE et al.

The Journal of Cell Biology, 1994

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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."