RB1 c.2048T>C ;(p.L683P)

Variant ID: 13-49033911-T-C

NM_000321.2(RB1):c.2048T>C;(p.L683P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


KRAS Mutations Are Associated with Shortened Survival in Patients with Epithelioid Malignant Pleural Mesothelioma.

Cancers
Vannucchi, Margherita M; Pennati, Veronica V; Mencaroni, Clelia C; Defraia, Chiara C; Bardhi, Ledi L; Castiglione, Francesca F; Bellan, Cristiana C; Comin, Camilla Eva CE
Publication Date: 2023-03-30

Variant appearance in text: RB1: 2048T>C; L683P
PubMed Link: 37046732
Variant Present in the following documents:
  • cancers-15-02072.pdf
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: RB1: 2048T>C; L683P
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s005.xlsx, sheet 1
View BVdb publication page



Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Cancers
Franceschi, Sara S; Civita, Prospero P; Pasqualetti, Francesco F; Lessi, Francesca F; Modena, Martina M; Barachini, Serena S; Morelli, Mariangela M; Santonocito, Orazio O; Vannozzi, Riccardo R; Pilkington, Geoffrey J GJ; Ortenzi, Valerio V; Naccarato, Antonio Giuseppe AG; Aretini, Paolo P; Mazzanti, Chiara Maria CM
Publication Date: 2021-04-23

Variant appearance in text: RB1: Leu683Pro
PubMed Link: 33922652
Variant Present in the following documents:
  • Main text
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: 2048T>C; L683P
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: RB1: 2048T>C; L683P
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA analyses predict progressive disease and indicate trastuzumab-resistant mechanism in advanced gastric cancer.

Ebiomedicine
Wang, Yan Y; Zhao, Chuanhua C; Chang, Lianpeng L; Jia, Ru R; Liu, Rongrui R; Zhang, Yun Y; Gao, Xuan X; Li, Jin J; Chen, Rongrong R; Xia, Xuefeng X; Bulbul, Ajaz A; Husain, Hatim H; Guan, Yanfang Y; Yi, Xin X; Xu, Jianming J
Publication Date: 2019-05

Variant appearance in text: RB1: 2048T>C; L683P
PubMed Link: 31031019
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page