KIT c.2468A>T ;(p.Y823F)

Variant ID: 4-55599342-A-T

NM_000222.2(KIT):c.2468A>T;(p.Y823F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Somatic pharmacogenomics of gastrointestinal stromal tumor.

Cancer Drug Resistance (Alhambra, Calif.)
Ravegnini, Gloria G; Hrelia, Patrizia P; Angelini, Sabrina S
Publication Date: 2019

Variant appearance in text: KIT: Y823F
PubMed Link: 35582147
Variant Present in the following documents:
  • cdr-2-107.pdf
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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: Y823F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Tyrosine 842 in the activation loop is required for full transformation by the oncogenic mutant FLT3-ITD.

Cellular And Molecular Life Sciences : Cmls
Kazi, Julhash U JU; Chougule, Rohit A RA; Li, Tianfeng T; Su, Xianwei X; Moharram, Sausan A SA; Rupar, Kaja K; Marhäll, Alissa A; Gazi, Mohiuddin M; Sun, Jianmin J; Zhao, Hui H; Rönnstrand, Lars L
Publication Date: 2017-07

Variant appearance in text: KIT: Y823F
PubMed Link: 28271164
Variant Present in the following documents:
  • Main text
  • 18_2017_Article_2494.pdf
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Protein Tyrosine Phosphatase PRL2 Mediates Notch and Kit Signals in Early T Cell Progenitors.

Stem Cells (Dayton, Ohio)
Kobayashi, Michihiro M; Nabinger, Sarah C SC; Bai, Yunpeng Y; Yoshimoto, Momoko M; Gao, Rui R; Chen, Sisi S; Yao, Chonghua C; Dong, Yuanshu Y; Zhang, Lujuan L; Rodriguez, Sonia S; Yashiro-Ohtani, Yumi Y; Pear, Warren S WS; Carlesso, Nadia N; Yoder, Mervin C MC; Kapur, Reuben R; Kaplan, Mark H MH; Daniel Lacorazza, Hugo H; Zhang, Zhong-Yin ZY; Liu, Yan Y
Publication Date: 2017-04

Variant appearance in text: KIT: Y823F
PubMed Link: 28009085
Variant Present in the following documents:
  • Main text
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Distinct cellular properties of oncogenic KIT receptor tyrosine kinase mutants enable alternative courses of cancer cell inhibition.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shi, Xiarong X; Sousa, Leiliane P LP; Mandel-Bausch, Elizabeth M EM; Tome, Francisco F; Reshetnyak, Andrey V AV; Hadari, Yaron Y; Schlessinger, Joseph J; Lax, Irit I
Publication Date: 2016-08-16

Variant appearance in text: KIT: Y823F
PubMed Link: 27482095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allosteric communication across the native and mutated KIT receptor tyrosine kinase.

Plos Computational Biology
Laine, Elodie E; Auclair, Christian C; Tchertanov, Luba L
Publication Date: 2012

Variant appearance in text: KIT: Y823F
PubMed Link: 22927810
Variant Present in the following documents:
  • Main text
  • pcbi.1002661.pdf
View BVdb publication page