RYR1 c.74C>A ;(p.A25D)

Variant ID: 19-38931413-C-A

NM_000540.2(RYR1):c.74C>A;(p.A25D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Bimagrumab vs Optimized Standard of Care for Treatment of Sarcopenia in Community-Dwelling Older Adults: A Randomized Clinical Trial.

Jama Network Open
Rooks, Daniel D; Swan, Therese T; Goswami, Budhaditya B; Filosa, Lee Anne LA; Bunte, Ola O; Panchaud, Nicolas N; Coleman, Laura A LA; Miller, Ram R RR; Garcia Garayoa, Elisa E; Praestgaard, Jens J; Perry, Robert G RG; Recknor, Chris C; Fogarty, Charles M CM; Arai, Hidenori H; Chen, Liang-Kung LK; Hashimoto, Jun J; Chung, Yoon-Sok YS; Vissing, John J; Laurent, Didier D; Petricoul, Olivier O; Hemsley, Sarah S; Lach-Trifilieff, Estelle E; Papanicolaou, Dimitris A DA; Roubenoff, Ronenn R
Publication Date: 2020-10-01

Variant appearance in text: MHS: A25D
PubMed Link: 33074327
Variant Present in the following documents:
  • Main text
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: RYR1: A25D
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: RYR1: A25D
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 3
View BVdb publication page



Prenatal Exposure to Phthalates and Neurodevelopment in the CHAMACOS Cohort.

Environmental Health Perspectives
Hyland, Carly C; Mora, Ana M AM; Kogut, Katherine K; Calafat, Antonia M AM; Harley, Kim K; Deardorff, Julianna J; Holland, Nina N; Eskenazi, Brenda B; Sagiv, Sharon K SK
Publication Date: 2019-10

Variant appearance in text: MHS: A25D
PubMed Link: 31652105
Variant Present in the following documents:
  • Main text
View BVdb publication page