KIT D820V
Gene Variant Detail

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Gene KIT
Variant D820V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D820V lies within the protein kinase domain of the Kit protein (UniProt.org). D820V has been identified as a secondary mutation associated with imatinib resistance (PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon17 KIT D820V

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Transcript NM_000222.3
gDNA chr4:g.54733167A>T
cDNA c.2459A>T
Protein p.D820V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54733167A>T c.2459A>T p.D820V RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733167A>T c.2459A>T p.D820V RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733167A>T c.2459A>T p.D820V RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733167A>T c.2459A>T p.D820V RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733167A>T c.2459A>T p.D820V RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733167A>T c.2459A>T p.D820V RefSeq GRCh38/hg38

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  • 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 D820V gastrointestinal stromal tumor predicted - sensitive Avapritinib Case Reports/Case Series Actionable In a Phase I trial, Ayvakit (avapritinib) treatment resulted in tumor reduction lasting through 15 cycles of treatment in a patient with gastrointestinal stromal tumor harboring KIT D820V, whose disease had progressed on previous Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib) treatment (PMID: 29093181; NCT02508532). 29093181
KIT D820V mucosal melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial (NICAM), Tasigna (nilotinib) treatment demonstrated activity in patients with acral (n=6) or mucosal melanoma (n=20) harboring KIT mutations, resulting in an objective response rate at 12 weeks of 19% (5/26), including a mucosal melanoma patient harboring KIT D820V, who had a 38.1% reduction of target lesions, remained on treatment for 54.2 months, with a progression-free survival of 15.6 months, and overall survival of 63.7 months (PMID: 38417447). 38417447