KIT c.1514A>T ;(p.N505I)

Variant ID: 4-55592190-A-T

NM_000222.2(KIT):c.1514A>T;(p.N505I)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Cancers
Suthapot, Praewa P; Chiangjong, Wararat W; Chaiyawat, Parunya P; Choochuen, Pongsakorn P; Pruksakorn, Dumnoensun D; Sangkhathat, Surasak S; Hongeng, Suradej S; Anurathapan, Usanarat U; Chutipongtanate, Somchai S
Publication Date: 2023-02-23

Variant appearance in text: KIT: N505I
PubMed Link: 36900212
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role and significance of c-KIT receptor tyrosine kinase in cancer: A review.

Bosnian Journal Of Basic Medical Sciences
Sheikh, Emana E; Tran, Tony T; Vranic, Semir S; Levy, Arkene A; Bonfil, R Daniel RD
Publication Date: 2022-09-16

Variant appearance in text: KIT: N505I
PubMed Link: 35490363
Variant Present in the following documents:
  • Main text
  • BJBMS-22-683.pdf
View BVdb publication page



Liquid Profiling for Cancer Patient Stratification in Precision Medicine-Current Status and Challenges for Successful Implementation in Standard Care.

Diagnostics (Basel, Switzerland)
Haselmann, Verena V; Hedtke, Maren M; Neumaier, Michael M
Publication Date: 2022-03-19

Variant appearance in text: KIT: N505I
PubMed Link: 35328301
Variant Present in the following documents:
  • diagnostics-12-00748.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: KIT: N505I
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: KIT: N505I
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: N505I
PubMed Link: 31043947
Variant Present in the following documents:
  • cro-0012-0109-s01.pdf
View BVdb publication page



Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine
Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F
Publication Date: 2018-11-15

Variant appearance in text: KIT: N505I
PubMed Link: 30442178
Variant Present in the following documents:
  • 13073_2018_591_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: KIT: 1514A>T; Asn505Ile
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s6.xlsx, sheet 9
View BVdb publication page



Aspects of Modern Biobank Activity - Comprehensive Review.

Pathology Oncology Research : Por
Paskal, Wiktor W; Paskal, Adriana M AM; Dębski, Tomasz T; Gryziak, Maciej M; Jaworowski, Janusz J
Publication Date: 2018-10

Variant appearance in text: KIT: N505I
PubMed Link: 29728978
Variant Present in the following documents:
  • Main text
  • 12253_2018_Article_418.pdf
View BVdb publication page



Focus on cutaneous and uveal melanoma specificities.

Genes & Development
Pandiani, Charlotte C; Béranger, Guillaume E GE; Leclerc, Justine J; Ballotti, Robert R; Bertolotto, Corine C
Publication Date: 2017-04-15

Variant appearance in text: KIT: N505I
PubMed Link: 28512236
Variant Present in the following documents:
  • 724.pdf
View BVdb publication page



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: N505I
PubMed Link: 27482095
Variant Present in the following documents:
  • Main text
View BVdb publication page



The strength and cooperativity of KIT ectodomain contacts determine normal ligand-dependent stimulation or oncogenic activation in cancer.

Molecular Cell
Reshetnyak, Andrey V AV; Opatowsky, Yarden Y; Boggon, Titus J TJ; Folta-Stogniew, Ewa E; Tome, Francisco F; Lax, Irit I; Schlessinger, Joseph J
Publication Date: 2015-01-08

Variant appearance in text: KIT: N505I
PubMed Link: 25544564
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.

Plos One
Hersmus, Remko R; Stoop, Hans H; van de Geijn, Gert Jan GJ; Eini, Ronak R; Biermann, Katharina K; Oosterhuis, J Wolter JW; Dhooge, Catharina C; Schneider, Dominik T DT; Meijssen, Isabelle C IC; Dinjens, Winand N M WN; Dubbink, Hendrikus Jan HJ; Drop, Stenvert L S SL; Looijenga, Leendert H J LH
Publication Date: 2012

Variant appearance in text: KIT: N505I
PubMed Link: 22937135
Variant Present in the following documents:
  • Main text
  • pone.0043952.pdf
View BVdb publication page