KIT c.1657_1659delinsAAG ;(p.Y553K)

Variant ID: 4-55593591-TAT-AAG

NM_000222.2(KIT):c.1657_1659delinsAAG;(p.Y553K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Syndromic gastrointestinal stromal tumors.

Hereditary Cancer In Clinical Practice
Ricci, Riccardo R
Publication Date: 2016

Variant appearance in text: KIT: Y553K
PubMed Link: 27437068
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibitor of Apoptosis Proteins (IAPs) are commonly dysregulated in GIST and can be pharmacologically targeted to enhance the pro-apoptotic activity of imatinib.

Oncotarget
Falkenhorst, Johanna J; Grunewald, Susanne S; Mühlenberg, Thomas T; Marino-Enriquez, Adrian A; Reis, Anna-Carina AC; Corless, Christopher C; Heinrich, Michael M; Treckmann, Jürgen J; Podleska, Lars Erik LE; Schuler, Martin M; Fletcher, Jonathan Alfred JA; Bauer, Sebastian S
Publication Date: 2016-07-05

Variant appearance in text: KIT: Tyr553Lys
PubMed Link: 27167336
Variant Present in the following documents:
  • oncotarget-07-41390-s001.pdf
View BVdb publication page



Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology
Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF
Publication Date: 2012-02

Variant appearance in text: KIT: Y553K
PubMed Link: 21748247
Variant Present in the following documents:
  • 10434_2011_1892_MOESM2_ESM.pdf
View BVdb publication page