KIT c.2108A>T ;(p.Y703F)

Variant ID: 4-55595618-A-T

NM_000222.2(KIT):c.2108A>T;(p.Y703F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: KIT: Y703F
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



C-KIT signaling depends on microphthalmia-associated transcription factor for effects on cell proliferation.

Plos One
Phung, Bengt B; Sun, Jianmin J; Schepsky, Alexander A; Steingrimsson, Eirikur E; Rönnstrand, Lars L
Publication Date: 2011

Variant appearance in text: KIT: Y703F
PubMed Link: 21887372
Variant Present in the following documents:
  • pone.0024064.pdf
View BVdb publication page



Direct binding of Cbl to Tyr568 and Tyr936 of the stem cell factor receptor/c-Kit is required for ligand-induced ubiquitination, internalization and degradation.

The Biochemical Journal
Masson, Kristina K; Heiss, Elke E; Band, Hamid H; Rönnstrand, Lars L
Publication Date: 2006-10-01

Variant appearance in text: CD117: Y703F
PubMed Link: 16780420
Variant Present in the following documents:
  • Main text
View BVdb publication page