Varaico: Literature-Extracted Genetic Variants

Gene:SRI
Variant:p.F112L
Back to variants list

SRI

NM_003130.4:p.F112L

Associated Papers

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.

Landstrom AP et al.

Current Molecular Medicine, 2012

Molecular basis for the impaired function of the natural F112L sorcin mutant: X-ray crystal structure, calcium affinity, and interaction with annexin VII and the ryanodine receptor.

Franceschini S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

Chiu C et al.

Journal of Molecular and Cellular Cardiology, 2007

Expression of a sorcin missense mutation in the heart modulates excitation-contraction coupling.

Collis LP et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007

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."