KIT c.1648_1649delinsCT ;(p.K550L)

Variant ID: 4-55593582-AA-CT

NM_000222.2(KIT):c.1648_1649delinsCT;(p.K550L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience
Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J
Publication Date: 2020

Variant appearance in text: KIT: K550L
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_377.pdf
View BVdb publication page



Microfluidic deletion/insertion analysis for rapid screening of KIT and PDGFRA mutations in CD117-positive gastrointestinal stromal tumors: diagnostic applications and report of a new KIT mutation.

The Journal Of Molecular Diagnostics : Jmd
Zamò, Alberto A; Bertolaso, Anna A; Franceschetti, Ilaria I; Weirich, Gregor G; Capelli, Paola P; Pecori, Sara S; Chilosi, Marco M; Hoefler, Heinz H; Menestrina, Fabio F; Scarpa, Aldo A
Publication Date: 2007-04

Variant appearance in text: KIT: K550L
PubMed Link: 17384206
Variant Present in the following documents:
  • Main text
View BVdb publication page