KIT c.1686G>T ;(p.E562D)

Variant ID: 4-55593620-G-T

NM_000222.2(KIT):c.1686G>T;(p.E562D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: KIT: Glu562Asp
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations.

Rare Tumors
Eliyakin, Nuket N; Postaci, Hakan H; Baskin, Yasemin Y; Kozacioğlu, Zafer Z
Publication Date: 2015-12-29

Variant appearance in text: KIT: E562D
PubMed Link: 26788274
Variant Present in the following documents:
  • Main text
  • rt-2015-4-5982.pdf
View BVdb publication page



Genomic analysis of metastatic cutaneous squamous cell carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Li, Yvonne Y YY; Hanna, Glenn J GJ; Laga, Alvaro C AC; Haddad, Robert I RI; Lorch, Jochen H JH; Hammerman, Peter S PS
Publication Date: 2015-03-15

Variant appearance in text: KIT: E562D
PubMed Link: 25589618
Variant Present in the following documents:
  • Main text
View BVdb publication page