RB1 c.346_349del ;(p.T116Lfs*8)

Variant ID: 13-48916816-CACTT-C

NM_000321.2(RB1):c.346_349del;(p.T116Lfs*8)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology
Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA
Publication Date: 2022-11

Variant appearance in text: RB1: 346_349delACTT
PubMed Link: 36321551
Variant Present in the following documents:
  • MSB-18-e11006-s010.xlsx, sheet 1
View BVdb publication page



Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial: Molecular Analysis for Therapy Choice Clinical Trial.

The Journal Of Molecular Diagnostics : Jmd
Lih, Chih-Jian CJ; Harrington, Robin D RD; Sims, David J DJ; Harper, Kneshay N KN; Bouk, Courtney H CH; Datta, Vivekananda V; Yau, Jonathan J; Singh, Rajesh R RR; Routbort, Mark J MJ; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Mantha, Geeta S GS; Krishnamurthy, Savitri S; Ronski, Karyn K; Walther, Zenta Z; Finberg, Karin E KE; Canosa, Sandra S; Robinson, Hayley H; Raymond, Amelia A; Le, Long P LP; McShane, Lisa M LM; Polley, Eric C EC; Conley, Barbara A BA; Doroshow, James H JH; Iafrate, A John AJ; Sklar, Jeffrey L JL; Hamilton, Stanley R SR; Williams, P Mickey PM
Publication Date: 2017-03

Variant appearance in text: RB1: 346_349delACTT
PubMed Link: 28188106
Variant Present in the following documents:
  • Main text
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: 346_349delACTT
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Molecular Cancer Therapeutics
Ikediobi, Ogechi N ON; Davies, Helen H; Bignell, Graham G; Edkins, Sarah S; Stevens, Claire C; O'Meara, Sarah S; Santarius, Thomas T; Avis, Tim T; Barthorpe, Syd S; Brackenbury, Lisa L; Buck, Gemma G; Butler, Adam A; Clements, Jody J; Cole, Jennifer J; Dicks, Ed E; Forbes, Simon S; Gray, Kristian K; Halliday, Kelly K; Harrison, Rachel R; Hills, Katy K; Hinton, Jonathan J; Hunter, Chris C; Jenkinson, Andy A; Jones, David D; Kosmidou, Vivienne V; Lugg, Richard R; Menzies, Andrew A; Mironenko, Tatiana T; Parker, Adrian A; Perry, Janet J; Raine, Keiran K; Richardson, David D; Shepherd, Rebecca R; Small, Alex A; Smith, Raffaella R; Solomon, Helen H; Stephens, Philip P; Teague, Jon J; Tofts, Calli C; Varian, Jennifer J; Webb, Tony T; West, Sofie S; Widaa, Sara S; Yates, Andy A; Reinhold, William W; Weinstein, John N JN; Stratton, Michael R MR; Futreal, P Andrew PA; Wooster, Richard R
Publication Date: 2006-11

Variant appearance in text: RB1: 346_349delACTT
PubMed Link: 17088437
Variant Present in the following documents:
  • Main text
View BVdb publication page