KIT I817L - Gene Variant Detail

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Gene KIT
Variant I817L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT I817L lies within the protein kinase domain of the Kit protein (UniProt.org). I817L has been identified in the scientific literature (PMID: 26424760, PMID: 29191620, PMID: 19369623), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2025).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon17 KIT I817L

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Transcript NM_000222.3
gDNA chr4:g.54733157A>C
cDNA c.2449A>C
Protein p.I817L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54733157A>C c.2449A>C p.I817L RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733157A>C c.2449A>C p.I817L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT I817L acral lentiginous melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) treatment resulted in an overall response rate of 16.7% (7/42, 1 complete and 6 partial responses) and a disease control rate of 57.1% in melanoma patients harboring KIT mutations (n=25), amplification (n=15), or both (n=2), including a partial response with a duration of response of 55 weeks in a patient with acral melanoma harboring KIT I817L (PMID: 26424760; NCT01099514). 26424760