KIT c.742_744delinsTGG ;(p.R248W)

Variant ID: 4-55565918-AGA-TGG

NM_000222.2(KIT):c.742_744delinsTGG;(p.R248W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications.

Frontiers In Oncology
Tirrò, Elena E; Massimino, Michele M; Broggi, Giuseppe G; Romano, Chiara C; Minasi, Simone S; Gianno, Francesca F; Antonelli, Manila M; Motta, Gianmarco G; Certo, Francesco F; Altieri, Roberto R; Manzella, Livia L; Caltabiano, Rosario R; Barbagallo, Giuseppe Maria Vincenzo GMV; Buttarelli, Francesca Romana FR; Magro, Gaetano G; Giangaspero, Felice F; Vigneri, Paolo P
Publication Date: 2022

Variant appearance in text: KIT: Arg248Trp
PubMed Link: 35372034
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



TRF2 and VEGF-A: an unknown relationship with prognostic impact on survival of colorectal cancer patients.

Journal Of Experimental & Clinical Cancer Research : Cr
Dinami, Roberto R; Porru, Manuela M; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Mottolese, Marcella M; Buglioni, Simonetta S; Marinelli, Daniele D; Maugeri-Saccà, Marcello M; Sacconi, Andrea A; Blandino, Giovanni G; Leonetti, Carlo C; Di Rocco, Giuliana G; Verdina, Alessandra A; Spinella, Francesca F; Fiorentino, Francesco F; Ciliberto, Gennaro G; Biroccio, Annamaria A; Zizza, Pasquale P
Publication Date: 2020-06-15

Variant appearance in text: KIT: R248W
PubMed Link: 32539869
Variant Present in the following documents:
  • 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: CD117: R248W
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 5
View BVdb publication page



Novel biomarkers of resistance of pancreatic cancer cells to oncolytic vesicular stomatitis virus.

Oncotarget
Hastie, Eric E; Cataldi, Marcela M; Moerdyk-Schauwecker, Megan J MJ; Felt, Sébastien A SA; Steuerwald, Nury N; Grdzelishvili, Valery Z VZ
Publication Date: 2016-09-20

Variant appearance in text: KIT: R248W
PubMed Link: 27533247
Variant Present in the following documents:
  • oncotarget-07-61601.pdf
View BVdb publication page



Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.

Oncotarget
Kaderbhai, Coureche Guillaume CG; Boidot, Romain R; Beltjens, Françoise F; Chevrier, Sandy S; Arnould, Laurent L; Favier, Laure L; Lagrange, Aurélie A; Coudert, Bruno B; Ghiringhelli, François F
Publication Date: 2016-04-26

Variant appearance in text: KIT: R248W
PubMed Link: 27027238
Variant Present in the following documents:
  • oncotarget-07-24860-s001.pdf
View BVdb publication page



Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.

Oncotarget
Karlsson, Anna A; Brunnström, Hans H; Lindquist, Kajsa Ericson KE; Jirström, Karin K; Jönsson, Mats M; Rosengren, Frida F; Reuterswärd, Christel C; Cirenajwis, Helena H; Borg, Åke Å; Jönsson, Per P; Planck, Maria M; Jönsson, Göran G; Staaf, Johan J
Publication Date: 2015-09-08

Variant appearance in text: KIT: Arg248Trp
PubMed Link: 26124082
Variant Present in the following documents:
  • oncotarget-06-22028-s004.xlsx, sheet 2
View BVdb publication page