KIT c.742_743delinsCA ;(p.R248Q)

Variant ID: 4-55565918-AG-CA

NM_000222.2(KIT):c.742_743delinsCA;(p.R248Q)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


TWEAK-Fn14-RelB signaling cascade promotes stem cell-like features that contribute to post-chemotherapy ovarian cancer relapse.

Molecular Cancer Research : Mcr
Holmberg, Ryne R; Robinson, Mikella M; Gilbert, Samuel F SF; Lujano-Olazaba, Omar O; Waters, Jennifer A JA; Kogan, Emily E; Velasquez, Candyd Lace R CLR; Stevenson, Denay D; Cruz, Luisjesus S LS; Alexander, Logan J LJ; Lara, Jacqueline J; Mu, Emily M EM; Camillo, Jared Rafael JR; Bitler, Benjamin G BG; Huxford, Tom T; House, Carrie D CD
Publication Date: 2022-10-10

Variant appearance in text: CD117: R248Q
PubMed Link: 36214671
Variant Present in the following documents:
  • 170.pdf
View BVdb publication page



P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma.

Case Reports In Obstetrics And Gynecology
Bouri, Sarah S; Simon, Philippe P; D'Haene, Nicky N; Catteau, Xavier X; Noël, Jean-Christophe JC
Publication Date: 2020

Variant appearance in text: KIT: R248Q
PubMed Link: 32774960
Variant Present in the following documents:
  • CRIOG2020-8863610.pdf
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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: R248Q
PubMed Link: 32539869
Variant Present in the following documents:
  • 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Kasumi leukemia cell lines: characterization of tumor genomes with ethnic origin and scales of genomic alterations.

Human Cell
Kasai, Fumio F; Asou, Hiroya H; Ozawa, Midori M; Kobayashi, Kazuhiko K; Kuramitsu, Hiroyuki H; Satoh, Motonobu M; Kohara, Arihiro A; Kaneko, Yasuhiko Y; Kawamura, Machiko M
Publication Date: 2020-07

Variant appearance in text: KIT: Arg248Gln
PubMed Link: 32180206
Variant Present in the following documents:
  • Main text
  • 13577_2020_Article_347.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: R248Q
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 5
View BVdb publication page



Comprehensive genetic diagnosis of acute myeloid leukemia by next-generation sequencing.

Haematologica
Mack, Elisabeth K M EKM; Marquardt, André A; Langer, Danny D; Ross, Petra P; Ultsch, Alfred A; Kiehl, Michael G MG; Mack, Hildegard I D HID; Haferlach, Torsten T; Neubauer, Andreas A; Brendel, Cornelia C
Publication Date: 2019-02

Variant appearance in text: KIT: R248Q
PubMed Link: 30190345
Variant Present in the following documents:
  • 2018.194258.MACK_SUPPL.pdf
View BVdb publication page



Mutations of epigenetic regulatory genes are common in thymic carcinomas.

Scientific Reports
Wang, Yisong Y; Thomas, Anish A; Lau, Christopher C; Rajan, Arun A; Zhu, Yuelin Y; Killian, J Keith JK; Petrini, Iacopo I; Pham, Trung T; Morrow, Betsy B; Zhong, Xiaogang X; Meltzer, Paul S PS; Giaccone, Giuseppe G
Publication Date: 2014-12-08

Variant appearance in text: KIT: R248Q
PubMed Link: 25482724
Variant Present in the following documents:
  • srep07336.pdf
View BVdb publication page