KIT c.2333A>G ;(p.K778R)

Variant ID: 4-55598136-A-G

NM_000222.2(KIT):c.2333A>G;(p.K778R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Site-specific ubiquitination of the E3 ligase HOIP regulates apoptosis and immune signaling.

The Embo Journal
Fennell, Lilian M LM; Gomez Diaz, Carlos C; Deszcz, Luiza L; Kavirayani, Anoop A; Hoffmann, David D; Yanagitani, Kota K; Schleiffer, Alexander A; Mechtler, Karl K; Hagelkruys, Astrid A; Penninger, Josef J; Ikeda, Fumiyo F
Publication Date: 2020-12-15

Variant appearance in text: CD117: K778R
PubMed Link: 33215740
Variant Present in the following documents:
  • Main text
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: K778R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page