RB1 c.2401G>T ;(p.G801*)

Variant ID: 13-49039416-G-T

NM_000321.2(RB1):c.2401G>T;(p.G801*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Oral Squamous Cell Carcinoma in Young Patients Show Higher Rates of EGFR Amplification: Implications for Novel Personalized Therapy.

Frontiers In Oncology
Satgunaseelan, Laveniya L; Porazinski, Sean S; Strbenac, Dario D; Istadi, Aji A; Willet, Cali C; Chew, Tracy T; Sadsad, Rosemarie R; Palme, Carsten E CE; Lee, Jenny H JH; Boyer, Michael M; Yang, Jean Y H JYH; Clark, Jonathan R JR; Pajic, Marina M; Gupta, Ruta R
Publication Date: 2021

Variant appearance in text: RB1: G801*
PubMed Link: 34912708
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy
Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB
Publication Date: 2021

Variant appearance in text: RB1: 2401G>T; G801X
PubMed Link: 34456592
Variant Present in the following documents:
  • Main text
  • rmhp-14-3453.pdf
View BVdb publication page



OTX015 (MK-8628), a novel BET inhibitor, exhibits antitumor activity in non-small cell and small cell lung cancer models harboring different oncogenic mutations.

Oncotarget
Riveiro, Maria E ME; Astorgues-Xerri, Lucile L; Vazquez, Ramiro R; Frapolli, Roberta R; Kwee, Ivo I; Rinaldi, Andrea A; Odore, Elodie E; Rezai, Keyvan K; Bekradda, Mohamed M; Inghirami, Giorgio G; D'Incalci, Maurizio M; Noel, Kay K; Cvitkovic, Esteban E; Raymond, Eric E; Bertoni, Francesco F
Publication Date: 2016-12-20

Variant appearance in text: RB1: 2401G>T; Gly801*
PubMed Link: 27835869
Variant Present in the following documents:
  • oncotarget-07-84675-s001.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: RB1: 2401G>T; G801*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page