KIT c.2388A>C ;(p.R796S)

Variant ID: 4-55599262-A-C

NM_000222.2(KIT):c.2388A>C;(p.R796S)

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: R796S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Pancreatic endocrine tumours: mutational and immunohistochemical survey of protein kinases reveals alterations in targetable kinases in cancer cell lines and rare primaries.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Corbo, V V; Beghelli, S S; Bersani, S S; Antonello, D D; Talamini, G G; Brunelli, M M; Capelli, P P; Falconi, M M; Scarpa, A A
Publication Date: 2012-01

Variant appearance in text: KIT: R796s
PubMed Link: 21447618
Variant Present in the following documents:
  • Main text
  • mdr048.pdf
View BVdb publication page