RB1 c.465T>G ;(p.Y155*)

Variant ID: 13-48919300-T-G

NM_000321.2(RB1):c.465T>G;(p.Y155*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: RB1: Y155*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Integrative analysis of multi-omics data reveals the heterogeneity and signatures of immune therapy for small cell lung cancer.

Clinical And Translational Medicine
Chen, Yabin Y; Fang, Zhaoyuan Z; Tang, Ying Y; Jin, Yujuan Y; Guo, Chenchen C; Hu, Liang L; Xu, Yang Y; Ma, Xidong X; Gao, Jie J; Xie, Mei M; Zang, Xuelei X; Liu, Sanhong S; Chen, Haiquan H; Thomas, Roman K RK; Xue, Xinying X; Ji, Hongbin H; Chen, Luonan L
Publication Date: 2021-12

Variant appearance in text: RB1: Y155X
PubMed Link: 34923768
Variant Present in the following documents:
  • CTM2-11-e620-s006.xlsx, sheet 2
View BVdb publication page



NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.

International Journal Of Cancer
Meder, Lydia L; König, Katharina K; Ozretić, Luka L; Schultheis, Anne M AM; Ueckeroth, Frank F; Ade, Carsten P CP; Albus, Kerstin K; Boehm, Diana D; Rommerscheidt-Fuss, Ursula U; Florin, Alexandra A; Buhl, Theresa T; Hartmann, Wolfgang W; Wolf, Jürgen J; Merkelbach-Bruse, Sabine S; Eilers, Martin M; Perner, Sven S; Heukamp, Lukas C LC; Buettner, Reinhard R
Publication Date: 2016-02-15

Variant appearance in text: RB1: 465T>G; Y155*
PubMed Link: 26340530
Variant Present in the following documents:
  • IJC-138-927-s005.xlsx, sheet 1
  • IJC-138-927-s005.xlsx, sheet 2
View BVdb publication page