KIT c.2464_2465delinsCT ;(p.N822L)

Variant ID: 4-55599338-AA-CT

NM_000222.2(KIT):c.2464_2465delinsCT;(p.N822L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

Cancers
El Hussein, Siba S; Chifotides, Helen T HT; Khoury, Joseph D JD; Verstovsek, Srdan S; Thakral, Beenu B
Publication Date: 2022-07-17

Variant appearance in text: KIT: N822L
PubMed Link: 35884535
Variant Present in the following documents:
  • Main text
  • cancers-14-03474.pdf
View BVdb publication page



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: N822L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Receptor Tyrosine Kinase-Targeted Cancer Therapy.

International Journal Of Molecular Sciences
Yamaoka, Toshimitsu T; Kusumoto, Sojiro S; Ando, Koichi K; Ohba, Motoi M; Ohmori, Tohru T
Publication Date: 2018-11-06

Variant appearance in text: KIT: N822L
PubMed Link: 30404198
Variant Present in the following documents:
  • Main text
  • ijms-19-03491.pdf
View BVdb publication page