KIT c.592G>A ;(p.E198K)

Variant ID: 4-55564704-G-A

NM_000222.2(KIT):c.592G>A;(p.E198K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Deep Sequencing Analysis Identified a Specific Subset of Mutations Distinctive of Biphasic Malignant Pleural Mesothelioma.

Cancers
Torricelli, Federica F; Lococo, Filippo F; Di Stefano, Teresa Severina TS; Lorenzini, Eugenia E; Piana, Simonetta S; Valli, Riccardo R; Rena, Ottavio O; Veronesi, Giulia G; Billè, Andrea A; Ciarrocchi, Alessia A
Publication Date: 2020-08-29

Variant appearance in text: KIT: Glu198Lys
PubMed Link: 32872534
Variant Present in the following documents:
  • Main text
  • cancers-12-02454.pdf
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: 592G>A
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 5
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: KIT: 592G>A; E198K
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page