RYR1 c.9452A>G ;(p.Q3151R)

Variant ID: 19-39003103-A-G

NM_000540.2(RYR1):c.9452A>G;(p.Q3151R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: RYR1: Q3151R
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.

Pharmacogenomics
Isackson, Paul J PJ; Wang, Jianxin J; Zia, Mohammad M; Spurgeon, Paul P; Levesque, Adrian A; Bard, Jonathan J; James, Smitha S; Nowak, Norma N; Lee, Tae Keun TK; Vladutiu, Georgirene D GD
Publication Date: 2018-11

Variant appearance in text: RYR1: Q3151R
PubMed Link: 30325262
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: RYR1: Q3151R
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Distinct evolutionary trajectories of primary high-grade serous ovarian cancers revealed through spatial mutational profiling.

The Journal Of Pathology
Bashashati, Ali A; Ha, Gavin G; Tone, Alicia A; Ding, Jiarui J; Prentice, Leah M LM; Roth, Andrew A; Rosner, Jamie J; Shumansky, Karey K; Kalloger, Steve S; Senz, Janine J; Yang, Winnie W; McConechy, Melissa M; Melnyk, Nataliya N; Anglesio, Michael M; Luk, Margaret T Y MT; Tse, Kane K; Zeng, Thomas T; Moore, Richard R; Zhao, Yongjun Y; Marra, Marco A MA; Gilks, Blake B; Yip, Stephen S; Huntsman, David G DG; McAlpine, Jessica N JN; Shah, Sohrab P SP
Publication Date: 2013-09

Variant appearance in text: RYR1: Q3151R
PubMed Link: 23780408
Variant Present in the following documents:
  • path0231-0021-sd16.xls, sheet 1
View BVdb publication page