KIT c.742_744delinsTGT ;(p.R248C)

Variant ID: 4-55565918-AGA-TGT

NM_000222.2(KIT):c.742_744delinsTGT;(p.R248C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Therapeutic Actionability of Circulating Cell-Free DNA Alterations in Carcinoma of Unknown Primary.

Jco Precision Oncology
Kato, Shumei S; Weipert, Caroline C; Gumas, Sophia S; Okamura, Ryosuke R; Lee, Suzanna S; Sicklick, Jason K JK; Saam, Jennifer J; Kurzrock, Razelle R
Publication Date: 2021

Variant appearance in text: KIT: R248C
PubMed Link: 34778692
Variant Present in the following documents:
  • po-5-po.21.00011.pdf
View BVdb publication page



Therapeutic Actionability of Circulating Cell-Free DNA Alterations in Carcinoma of Unknown Primary.

Jco Precision Oncology
Kato, Shumei S; Weipert, Caroline C; Gumas, Sophia S; Okamura, Ryosuke R; Lee, Suzanna S; Sicklick, Jason K JK; Saam, Jennifer J; Kurzrock, Razelle R
Publication Date: 2021

Variant appearance in text: KIT: R248C
PubMed Link: 34778692
Variant Present in the following documents:
  • po-5-po.21.00011.pdf
View BVdb publication page



Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.

Oncotargets And Therapy
Chen, Qiong Q; Li, Rong R; Zhang, Zhi-Gao ZG; Deng, Qiao-Ting QT; Li, Kun K; Wang, Hao H; Yang, Xue-Xi XX; Wu, Ying-Song YS
Publication Date: 2018

Variant appearance in text: KIT: R248C
PubMed Link: 29719410
Variant Present in the following documents:
  • Main text
  • ott-11-2279.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: KIT: Arg248Cys
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Next generation MUT-MAP, a high-sensitivity high-throughput microfluidics chip-based mutation analysis panel.

Plos One
Schleifman, Erica B EB; Tam, Rachel R; Patel, Rajesh R; Tsan, Alison A; Sumiyoshi, Teiko T; Fu, Ling L; Desai, Rupal R; Schoenbrunner, Nancy N; Myers, Thomas W TW; Bauer, Keith K; Smith, Edward E; Raja, Rajiv R
Publication Date: 2014

Variant appearance in text: KIT: R248C
PubMed Link: 24658394
Variant Present in the following documents:
  • pone.0090761.pdf
View BVdb publication page