RB1 c.2221C>A ;(p.R741S)

Variant ID: 13-49039143-C-A

NM_000321.2(RB1):c.2221C>A;(p.R741S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Cancer Drug Resistance (Alhambra, Calif.)
Alonso-Peña, Marta M; Sanchez-Martin, Anabel A; Sanchon-Sanchez, Paula P; Soto-Muñiz, Meraris M; Espinosa-Escudero, Ricardo R; Marin, Jose J G JJG
Publication Date: 2019

Variant appearance in text: RB1: 2221C>A
PubMed Link: 35582588
Variant Present in the following documents:
  • cdr-2-680.pdf
View BVdb publication page



Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.

Bmc Cancer
Vidal, Amanda Ferreira AF; Ferraz, Rafaella Sousa RS; El-Husny, Antonette A; Silva, Caio Santos CS; Vinasco-Sandoval, Tatiana T; Magalhães, Leandro L; Raiol-Moraes, Milene M; Barra, Williams Fernandes WF; Pereira, Cynthia Lara Brito Lins CLBL; de Assumpção, Paulo Pimentel PP; de Brito, Leonardo Miranda LM; Vialle, Ricardo Assunção RA; Santos, Sidney S; Ribeiro-Dos-Santos, Ândrea Â; Ribeiro-Dos-Santos, André M AM
Publication Date: 2021-04-07

Variant appearance in text: RB1: 2221C>A; Arg741Ser
PubMed Link: 33827469
Variant Present in the following documents:
  • 12885_2021_8089_MOESM3_ESM.xlsx, sheet 1
  • 12885_2021_8089_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: RB1: 2221C>A; Arg741Ser
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis.

Nature Communications
Letouzé, Eric E; Shinde, Jayendra J; Renault, Victor V; Couchy, Gabrielle G; Blanc, Jean-Frédéric JF; Tubacher, Emmanuel E; Bayard, Quentin Q; Bacq, Delphine D; Meyer, Vincent V; Semhoun, Jérémy J; Bioulac-Sage, Paulette P; Prévôt, Sophie S; Azoulay, Daniel D; Paradis, Valérie V; Imbeaud, Sandrine S; Deleuze, Jean-François JF; Zucman-Rossi, Jessica J
Publication Date: 2017-11-03

Variant appearance in text: RB1: R741S
PubMed Link: 29101368
Variant Present in the following documents:
  • 41467_2017_1358_MOESM5_ESM.pdf
  • 41467_2017_1358_MOESM1_ESM.pdf
View BVdb publication page