Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.A331P
Back to variants list

ACTG1

NM_001614.5:p.A331P

Associated Papers

Cryo-EM structures of cardiac muscle α-actin mutants M305L and A331P give insights into the structural mechanisms of hypertrophic cardiomyopathy.

Huang HL et al.

European Journal of Cell Biology, 2024

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

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

Subdomain location of mutations in cardiac actin correlate with type of functional change.

Mundia MM et al.

Plos One, 2012

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

Expression of actin mutants to study their roles in cardiomyopathy.

Rutkevich LA et al.

Canadian Journal of Physiology and Pharmacology, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."