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Gene | KIT |
Variant | exon 11 del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT exon 11 deletions are in-frame deletions within the juxtamembrane domain of the Kit protein (PMID: 26349547). KIT exon 11 deletions are associated with constitutive activation of Kit (PMID: 9438854, PMID: 15365079). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT exon 11 del KIT mutant KIT exon11 KIT exon 11 del |