KIT c.2464_2465delinsGT ;(p.N822V)

Variant ID: 4-55599338-AA-GT

NM_000222.2(KIT):c.2464_2465delinsGT;(p.N822V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: N822V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Gastrointestinal stromal tumors (GISTs): point mutations matter in management, a review.

Journal Of Gastrointestinal Oncology
Oppelt, Peter J PJ; Hirbe, Angela C AC; Van Tine, Brian A BA
Publication Date: 2017-06

Variant appearance in text: KIT: N822V
PubMed Link: 28736634
Variant Present in the following documents:
  • Main text
View BVdb publication page