KIT c.2040T>A ;(p.N680K)

Variant ID: 4-55595550-T-A

NM_000222.2(KIT):c.2040T>A;(p.N680K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Plasma Sequencing for Patients with GIST-Limitations and Opportunities in an Academic Setting.

Cancers
Falkenhorst, Johanna J; Grunewald, Susanne S; Krzeciesa, Dawid D; Herold, Thomas T; Ketzer, Julia J; Christoff, Miriam M; Hamacher, Rainer R; Kostbade, Karina K; Treckmann, Jürgen J; Köster, Johannes J; Farzaliyev, Farhad F; Fletcher, Benjamin Samulon BS; Dieckmann, Nils N; Kaths, Moritz M; Mühlenberg, Thomas T; Schildhaus, Hans-Ulrich HU; Bauer, Sebastian S
Publication Date: 2022-11-09

Variant appearance in text: KIT: N680K
PubMed Link: 36428589
Variant Present in the following documents:
  • Main text
  • cancers-14-05496.pdf
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: KIT: N680K
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_6.xlsx, sheet 9
  • Table_1.xlsx, sheet 4
  • Table_1.xlsx, sheet 8
  • Table_2.xlsx, sheet 7
  • Table_2.xlsx, sheet 1
  • Table_6.xlsx, sheet 4
  • Table_2.xlsx, sheet 2
View BVdb publication page



Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers
Hamid, Abdulaziz B AB; Petreaca, Ruben C RC
Publication Date: 2020-04-09

Variant appearance in text: KIT: N680K
PubMed Link: 32283832
Variant Present in the following documents:
  • cancers-12-00927-s001.pdf
View BVdb publication page



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: N680K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Case Reports In Oncology
Orlova, Kristina V KV; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Venina, Aigul R AR; Iyevleva, Aglaya G AG; Demidov, Lev V LV; Imyanitov, Evgeny N EN
Publication Date: 2019

Variant appearance in text: KIT: N680K
PubMed Link: 31043947
Variant Present in the following documents:
  • cro-0012-0109-s01.pdf
View BVdb publication page



Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Bmc Cancer
Heydt, Carina C; Kumm, Niklas N; Fassunke, Jana J; Künstlinger, Helen H; Ihle, Michaela Angelika MA; Scheel, Andreas A; Schildhaus, Hans-Ulrich HU; Haller, Florian F; Büttner, Reinhard R; Odenthal, Margarete M; Wardelmann, Eva E; Merkelbach-Bruse, Sabine S
Publication Date: 2015-04-15

Variant appearance in text: KIT: N680K
PubMed Link: 25886408
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1311.pdf
View BVdb publication page