RB1 c.2488A>T ;(p.R830*)

Variant ID: 13-49039503-A-T

NM_000321.2(RB1):c.2488A>T;(p.R830*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Cold and heterogeneous T cell repertoire is associated with copy number aberrations and loss of immune genes in small-cell lung cancer.

Nature Communications
Chen, Ming M; Chen, Runzhe R; Jin, Ying Y; Li, Jun J; Hu, Xin X; Zhang, Jiexin J; Fujimoto, Junya J; Hubert, Shawna M SM; Gay, Carl M CM; Zhu, Bo B; Tian, Yanhua Y; McGranahan, Nicholas N; Lee, Won-Chul WC; George, Julie J; Hu, Xiao X; Chen, Yamei Y; Wu, Meijuan M; Behrens, Carmen C; Chow, Chi-Wan CW; Pham, Hoa H N HHN; Fukuoka, Junya J; Wu, Jia J; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Song, Xingzhi X; Wu, Chang-Jiun CJ; Diao, Lixia L; Wang, Qi Q; Cardnell, Robert R; Zhang, Jianhua J; Wang, Jing J; Le, Xiuning X; Gibbons, Don L DL; Heymach, John V JV; Jack Lee, J J; William, William N WN; Cheng, Chao C; Glisson, Bonnie B; Wistuba, Ignacio I; Andrew Futreal, P P; Thomas, Roman K RK; Reuben, Alexandre A; Byers, Lauren A LA; Zhang, Jianjun J
Publication Date: 2021-11-17

Variant appearance in text: RB1: R830X
PubMed Link: 34789716
Variant Present in the following documents:
  • 41467_2021_26821_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer: a phase Ib/II efficacy and biomarker study.

Signal Transduction And Targeted Therapy
Wang, Pingli P; Li, Yuping Y; Lv, Dongqing D; Yang, Lingge L; Ding, Liren L; Zhou, Jianya J; Hong, Wei W; Chen, Youfei Y; Zhang, Dongqing D; He, Susu S; Zhou, Jianying J; Wang, Kai K
Publication Date: 2021-11-01

Variant appearance in text: RB1: R830*
PubMed Link: 34719670
Variant Present in the following documents:
  • 41392_2021_773_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: RB1: 2488A>T; R830*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page