Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.P164A
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ACTG1

NM_001614.5:p.P164A

Associated Papers

Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2014

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 binding proteins: regulation of cytoskeletal microfilaments.

dos Remedios CG et al.

Physiological Reviews, 2003

Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations.

Wong WW et al.

Journal of Muscle Research and Cell Motility, 2001

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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."