ALK c.3835_3836delinsCA ;(p.R1279Q)

Variant ID: 2-29432652-CT-TG

NM_004304.4(ALK):c.3835_3836delinsCA;(p.R1279Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Computational studies of anaplastic lymphoma kinase mutations reveal common mechanisms of oncogenic activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Patil, Keshav K; Jordan, Earl Joseph EJ; Park, Jin H JH; Suresh, Krishna K; Smith, Courtney M CM; Lemmon, Abigail A AA; Mossé, Yaël P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R
Publication Date: 2021-03-09

Variant appearance in text: ALK: R1279Q
PubMed Link: 33674381
Variant Present in the following documents:
  • Main text
  • pnas.202019132.pdf
View BVdb publication page



Expression of the Neuroblastoma-Associated ALK-F1174L Activating Mutation During Embryogenesis Impairs the Differentiation of Neural Crest Progenitors in Sympathetic Ganglia.

Frontiers In Oncology
Vivancos Stalin, Lucie L; Gualandi, Marco M; Schulte, Johannes Hubertus JH; Renella, Raffaele R; Shakhova, Olga O; Mühlethaler-Mottet, Annick A
Publication Date: 2019

Variant appearance in text: ALK: R1279Q
PubMed Link: 31058082
Variant Present in the following documents:
  • Main text
  • fonc-09-00275.pdf
View BVdb publication page



Neuroblastoma-A Neural Crest Derived Embryonal Malignancy.

Frontiers In Molecular Neuroscience
Johnsen, John Inge JI; Dyberg, Cecilia C; Wickström, Malin M
Publication Date: 2019

Variant appearance in text: ALK: R1279Q
PubMed Link: 30760980
Variant Present in the following documents:
  • Main text
View BVdb publication page



DRUGPATH - a novel bioinformatic approach identifies DNA-damage pathway as a regulator of size maintenance in human ESCs and iPSCs.

Scientific Reports
Kovacic, Boris B; Rosner, Margit M; Schlangen, Karin K; Kramer, Nina N; Hengstschläger, Markus M
Publication Date: 2019-02-13

Variant appearance in text: ALK: R1279Q
PubMed Link: 30760778
Variant Present in the following documents:
  • 41598_2018_37491_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Activated ALK signals through the ERK-ETV5-RET pathway to drive neuroblastoma oncogenesis.

Oncogene
Lopez-Delisle, Lucille L; Pierre-Eugène, Cécile C; Louis-Brennetot, Caroline C; Surdez, Didier D; Raynal, Virginie V; Baulande, Sylvain S; Boeva, Valentina V; Grossetête-Lalami, Sandrine S; Combaret, Valérie V; Peuchmaur, Michel M; Delattre, Olivier O; Janoueix-Lerosey, Isabelle I
Publication Date: 2018-03

Variant appearance in text: ALK: R1279Q
PubMed Link: 29321660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wild-type ALK and activating ALK-R1275Q and ALK-F1174L mutations upregulate Myc and initiate tumor formation in murine neural crest progenitor cells.

Oncotarget
Montavon, Gisèle G; Jauquier, Nicolas N; Coulon, Aurélie A; Peuchmaur, Michel M; Flahaut, Marjorie M; Bourloud, Katia Balmas KB; Yan, Pu P; Delattre, Olivier O; Sommer, Lukas L; Joseph, Jean-Marc JM; Janoueix-Lerosey, Isabelle I; Gross, Nicole N; Mühlethaler-Mottet, Annick A
Publication Date: 2014-06-30

Variant appearance in text: ALK: R1279Q
PubMed Link: 24947326
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activated Alk triggers prolonged neurogenesis and Ret upregulation providing a therapeutic target in ALK-mutated neuroblastoma.

Oncotarget
Cazes, Alex A; Lopez-Delisle, Lucille L; Tsarovina, Konstantina K; Pierre-Eugène, Cécile C; De Preter, Katleen K; Peuchmaur, Michel M; Nicolas, André A; Provost, Claire C; Louis-Brennetot, Caroline C; Daveau, Romain R; Kumps, Candy C; Cascone, Ilaria I; Schleiermacher, Gudrun G; Prignon, Aurélie A; Speleman, Frank F; Rohrer, Hermann H; Delattre, Olivier O; Janoueix-Lerosey, Isabelle I
Publication Date: 2014-05-15

Variant appearance in text: ALK: R1279Q
PubMed Link: 24811913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hyperactivation of Alk induces neonatal lethality in knock-in AlkF1178L mice.

Oncotarget
Lopez-Delisle, Lucille L; Pierre-Eugène, Cécile C; Bloch-Gallego, Evelyne E; Birling, Marie-Christine MC; Duband, Jean-Loup JL; Durand, Estelle E; Bourgeois, Thomas T; Matrot, Boris B; Sorg, Tania T; Huerre, Michel M; Meziane, Hamid H; Roux, Michel J MJ; Champy, Marie-France MF; Gallego, Jorge J; Delattre, Olivier O; Janoueix-Lerosey, Isabelle I
Publication Date: 2014-05-15

Variant appearance in text: ALK: R1279Q
PubMed Link: 24811761
Variant Present in the following documents:
  • Main text
  • oncotarget-05-2703.pdf
View BVdb publication page