Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A2500A
Back to variants list

RYR1

NM_000540.3:p.A2500A

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc6.xlsx › Sheet1

A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.

Jeong SK et al.

Journal of Clinical Neurology (seoul, Korea), 2008

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Galli L et al.

Human Mutation, 2006

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

Davis MR et al.

Neuromuscular Disorders : Nmd, 2003

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."