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| Gene | KIT |
| Variant | S645_L647dup |
| Impact List | duplication |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT S645_L647dup (also referred to as L647_G648insSYL) indicates the insertion of three duplicate amino acids, serine (S)-645 through leucine (L)-647, in the protein kinase domain of the Kit protein (UniProt.org). S645_L647dup is associated with resistance to KIT inhibitors (PMID: 38408285), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
KIT mutant KIT exon13 KIT S645_L647dup |
| Transcript | NM_000222 |
| gDNA | chr4:g.54728072_54728073insAGCTATCTT |
| cDNA | c.1941_1942insAGCTATCTT |
| Protein | p.S645_L647dup |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54728072_54728073insAGCTATCTT | c.1941_1942insAGCTATCTT | p.S645_L647dup | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|