NF1 c.2991del ;(p.R997Sfs*15)

Variant ID: 17-29557276-AG-A

NM_001042492.2(NF1):c.2991del;(p.R997Sfs*15)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic and epigenetic characterization of posterior pituitary tumors.

Acta Neuropathologica
Schmid, Simone S; Solomon, David A DA; Perez, Eilis E; Thieme, Anne A; Kleinschmidt-DeMasters, Bette K BK; Giannini, Caterina C; Reinhardt, Annekathrin A; Asa, Sylvia L SL; Mete, Ozgur O; Stichel, Damian D; Siewert, Christin C; Dittmayer, Carsten C; Hasselblatt, Martin M; Paulus, Werner W; Nagel, Christoph C; Harter, Patrick N PN; Schittenhelm, Jens J; Honegger, Jürgen J; Rushing, Elisabeth E; Coras, Roland R; Pfister, Stefan M SM; Buslei, Rolf R; Koch, Arend A; Perry, Arie A; Jones, David T W DTW; von Deimling, Andreas A; Capper, David D; Lopes, M Beatriz MB
Publication Date: 2021-12

Variant appearance in text: NF1: 2991delG; R997fs
PubMed Link: 34661724
Variant Present in the following documents:
  • Main text
  • 401_2021_2377_MOESM9_ESM.xlsx, sheet 1
  • 401_2021_Article_2377.pdf
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: Arg997fs
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
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: NF1: R997fs*15
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page