KIT c.1672_1692del ;(p.K558_N564del)

Variant ID: 4-55593606-GAAGGTTGTTGAGGAGATAAAT-G

NM_000222.2(KIT):c.1672_1692del;(p.K558_N564del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: KIT: 1672_1692del; K558_N564del
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: KIT: 1672_1692del; K558_N564del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

Endocrine-Related Cancer
Haller, Florian F; Moskalev, Evgeny A EA; Faucz, Fabio R FR; Barthelmeß, Sarah S; Wiemann, Stefan S; Bieg, Matthias M; Assie, Guillaume G; Bertherat, Jerome J; Schaefer, Inga-Marie IM; Otto, Claudia C; Rattenberry, Eleanor E; Maher, Eamonn R ER; Ströbel, Philipp P; Werner, Martin M; Carney, J Aidan JA; Hartmann, Arndt A; Stratakis, Constantine A CA; Agaimy, Abbas A
Publication Date: 2014-08

Variant appearance in text: KIT: 1672_1692del; Lys558_Asn564del
PubMed Link: 24859990
Variant Present in the following documents:
  • Main text
View BVdb publication page