KIT c.2041T>C ;(p.F681L)

Variant ID: 4-55595551-T-C

NM_000222.2(KIT):c.2041T>C;(p.F681L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Research Autopsy Demonstrates Polyclonal Acquired Resistance in a Patient With Metastatic GI Stromal Tumor.

Jco Precision Oncology
Paruchuri, Anoosha A; Chen, Hui-Zi HZ; Bonneville, Russell R; Reeser, Julie W JW; Wing, Michele R MR; Krook, Melanie A MA; Samorodnitsky, Eric E; Miya, Jharna J; Dao, Thuy T; Smith, Amy A; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S
Publication Date: 2020

Variant appearance in text: KIT: F681L
PubMed Link: 32923900
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: F681L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page