KIT c.2378T>C ;(p.L793S)

Variant ID: 4-55599252-T-C

NM_000222.2(KIT):c.2378T>C;(p.L793S)

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: L793S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Activating c-KIT mutations confer oncogenic cooperativity and rescue RUNX1/ETO-induced DNA damage and apoptosis in human primary CD34+ hematopoietic progenitors.

Leukemia
Wichmann, C C; Quagliano-Lo Coco, I I; Yildiz, Ö Ö; Chen-Wichmann, L L; Weber, H H; Syzonenko, T T; Döring, C C; Brendel, C C; Ponnusamy, K K; Kinner, A A; Brandts, C C; Henschler, R R; Grez, M M
Publication Date: 2015-02

Variant appearance in text: KIT: L793S
PubMed Link: 24897507
Variant Present in the following documents:
  • Main text
  • leu2014179a.pdf
View BVdb publication page