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Gene | KIT |
Variant | D579del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT D579del results in a deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 579 (PMID: 9797363). D579del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, transformation of cultured cells and tumor formation in mice (PMID: 9797363). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT exon 11 del KIT D579del KIT mutant KIT exon11 KIT exon 11 del KIT D579del |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727503_54727505delGAT |
cDNA | c.1735_1737delGAT |
Protein | p.D579delD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |