Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A2141V
Back to variants list

RYR1

NM_000540.3:p.A2141V

Associated Papers

Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Parada-Márquez JF et al.

Frontiers in Pharmacology, 2023

37021041 (PubMed )
Supplement: Table2.xlsx › Hoja1

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

Fridriksdottir R et al.

European Journal of Human Genetics : Ejhg, 2021

34462577 (PubMed )
Supplement: 41431_2021_954_MOESM1_ESM.xlsx › RYR1_MAF_0.1_
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."