Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E93K
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ACTG1

NM_001614.5:p.E93K

Associated Papers

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

Actin residue glu(93) is identified as an amino acid affecting myosin binding.

Razzaq A et al.

The Journal of Biological Chemistry, 1999

Mutations in actin subdomain 3 that impair thin filament regulation by troponin and tropomyosin.

Korman VL et al.

The Journal of Biological Chemistry, 1999

Role of residues 311/312 in actin-tropomyosin interaction. In vitro motility study using yeast actin mutant e311a/r312a.

Gerson JH et al.

The Journal of Biological Chemistry, 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."