Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.V2461G
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RYR1

NM_000540.3:p.V2461G

Associated Papers

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Lawal TA et al.

Orphanet Journal of Rare Diseases, 2020

Review of RyR1 pathway and associated pathomechanisms.

Witherspoon JW et al.

Acta Neuropathologica Communications, 2016

Crystal structures of ryanodine receptor SPRY1 and tandem-repeat domains reveal a critical FKBP12 binding determinant.

Yuchi Z et al.

Nature Communications, 2015

Regulation of ryanodine receptors by FK506 binding proteins.

Chelu MG et al.

Trends in Cardiovascular Medicine, 2004

FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes.

Avila G et al.

The Journal of Biological Chemistry, 2003

FKBP12 binding modulates ryanodine receptor channel gating.

Gaburjakova M et al.

The Journal of Biological Chemistry, 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."