Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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