Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Thr671Ile (p.T671I) ( ENST00000412167.7, ENST00000288135.6, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Thr671Ile (p.T671I) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
Associated Disease
Myeloid Leukemia, Chronic
Source Database
DisGeNET
Description
Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structure-based development of type II hybrid inhibitors to overcome gatekeeper drug-resistant mutations in cSrc-T338M, as well as clinically relevant tyrosine kinase KIT-T670I and Abl-T315I variants, as essential targets in gastrointestinal stromal tumors (GISTs) and chronic myelogenous leukemia (CML).
Pubmed
23773153
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00706742019575203
Year of publication
2014
Drugs