RYR1 c.1039G>A ;(p.V347M)

Variant ID: 19-38939370-G-A

NM_000540.2(RYR1):c.1039G>A;(p.V347M)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Experimental Hematology & Oncology
Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J
Publication Date: 2022-10-15

Variant appearance in text: RYR1: 1039G>A; Val347Met; rs138647682
PubMed Link: 36243813
Variant Present in the following documents:
  • 40164_2022_325_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Nature Communications
Li, Renda R; Yang, Zhenlin Z; Shao, Fei F; Cheng, Hong H; Wen, Yaru Y; Sun, Sijin S; Guo, Wei W; Li, Zitong Z; Zhang, Fan F; Xue, Liyan L; Bi, Nan N; Wang, Jie J; Sun, Yingli Y; Li, Yin Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; Shi, Susheng S; Gao, Yibo Y; He, Jie J
Publication Date: 2021-06-18

Variant appearance in text: RYR1: 1039G>A; V347M; rs138647682
PubMed Link: 34145257
Variant Present in the following documents:
  • 41467_2021_24043_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: V347M
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: RYR1: 1039G>A; V347M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: V347M
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page