KIT c.1943_1944delinsAG ;(p.G648E)

Variant ID: 4-55594240-GT-AG

NM_000222.2(KIT):c.1943_1944delinsAG;(p.G648E)

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: G648E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Clonal architectures and driver mutations in metastatic melanomas.

Plos One
Ding, Li L; Kim, Minjung M; Kanchi, Krishna L KL; Dees, Nathan D ND; Lu, Charles C; Griffith, Malachi M; Fenstermacher, David D; Sung, Hyeran H; Miller, Christopher A CA; Goetz, Brian B; Wendl, Michael C MC; Griffith, Obi O; Cornelius, Lynn A LA; Linette, Gerald P GP; McMichael, Joshua F JF; Sondak, Vernon K VK; Fields, Ryan C RC; Ley, Timothy J TJ; Mulé, James J JJ; Wilson, Richard K RK; Weber, Jeffrey S JS
Publication Date: 2014

Variant appearance in text: KIT: G648E
PubMed Link: 25393105
Variant Present in the following documents:
  • Main text
  • pone.0111153.pdf
View BVdb publication page