Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.K336E
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ACTG1

NM_001614.5:p.K336E

Associated Papers

K336I mutant actin alters the structure of neighbouring protomers in filaments and reduces affinity for actin-binding proteins.

Umeki N et al.

Scientific Reports, 2019

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ et al.

Neuromuscular Disorders : Nmd, 2009

Skeletal muscle alpha-actin diseases.

North KN et al.

Advances in Experimental Medicine and Biology, 2008

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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."