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| Gene | KIT |
| Variant | N560_Y574del |
| Impact List | deletion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | KIT N560_Y574del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 574 (PMID: 16226710). N560_Y574del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT act mut KIT exon 11 del KIT N560_Y574del KIT mutant KIT exon11 KIT exon 11 del KIT N560_Y574del |
| Transcript | NM_001385286.1 |
| gDNA | chr4:g.54727458_54727502del45 |
| cDNA | c.1678_1722del45 |
| Protein | p.N560_Y574del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001093772.2 | chr4:g.54727458_54727502del45 | c.1678_1722del45 | p.N560_Y574del | RefSeq | GRCh38/hg38 |
| NM_001385286.1 | chr4:g.54727458_54727502del45 | c.1678_1722del45 | p.N560_Y574del | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|