Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G249R
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RYR1

NM_000540.3:p.G249R

Associated Papers

Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.

Iyer KA et al.

Current Opinion in Pharmacology, 2023

Structural Insight Into Ryanodine Receptor Channelopathies.

Hadiatullah H et al.

Frontiers in Pharmacology, 2022

Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.

Bauerová-Hlinková V et al.

Molecules (basel, Switzerland), 2020

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

Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.

Yamazawa T et al.

The Journal of General Physiology, 2020

The N-Terminal Region of the Ryanodine Receptor Affects Channel Activation.

Faltinova A et al.

Frontiers in Physiology, 2017

Structural insights into endoplasmic reticulum stored calcium regulation by inositol 1,4,5-trisphosphate and ryanodine receptors.

Seo MD et al.

Biochimica Et Biophysica Acta, 2015

Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.

Murayama T et al.

Plos One, 2015

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.

Kimlicka L et al.

Nature Communications, 2013

Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

Tong J et al.

The Journal of Biological Chemistry, 1999

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.

Tong J et al.

The Journal of Biological Chemistry, 1997

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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."