Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D4878A
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RYR1

NM_000540.3:p.D4878A

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

A skeletal muscle ryanodine receptor interaction domain in triadin.

Wium E et al.

Plos One, 2012

Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling.

Goonasekera SA et al.

The Journal of General Physiology, 2007

Occurrence of atypical Ca2+ transients in triadin-binding deficient-RYR1 mutants.

Lee EH et al.

Biochemical and Biophysical Research Communications, 2006

Negatively charged amino acids within the intraluminal loop of ryanodine receptor are involved in the interaction with triadin.

Lee JM et al.

The Journal of Biological Chemistry, 2004

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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."