Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.F2364V
Back to variants list

RYR1

NM_000540.3:p.F2364V

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.

Hernández Trapero R et al.

Human Mutation, 2025

41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants

Genetic epidemiology of malignant hyperthermia in the UK.

Miller DM et al.

British Journal of Anaesthesia, 2018

Diseases associated with altered ryanodine receptor activity.

Durham WJ et al.

Sub-cellular Biochemistry, 2007

Novel ryanodine receptor 1 (RYR1) missense gene variants in two pet dogs with fatal malignant hyperthermia identified by next-generation sequencing.

Perez Jimenez TE et al.

Veterinary Anaesthesia and Analgesia, 0

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."