Gene Variant Detail

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Gene KIT
Variant D820Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D820Y lies within the protein kinase domain of the Kit protein (UniProt.org). D820Y results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 19035443, PMID: 11984533), and has also been identified as a secondary drug mutation associated with imatinib resistance (PMID: 18488160).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D820Y

KIT mutant KIT exon17 KIT D820Y

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Transcript NM_000222.2
gDNA chr4:g.54733166G>T
cDNA c.2458G>T
Protein p.D820Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_000222 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D820Y melanoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a clinical case study, Nexavar (sorafenib) treatment resulted in stable disease with 27% reduction in target lesions at 4 weeks in a patient with anal melanoma and pulmonary metastases harboring KIT D820Y (PMID: 20372153). 20372153
KIT D820Y melanoma sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited MNK pathway activation and proliferation of melanoma cell lines harboring KIT D820Y in culture (PMID: 29035277). 29035277
KIT D820Y melanoma resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib mesylate) failed to inhibit MNK pathway activation and proliferation of melanoma cell lines harboring KIT D820Y in culture (PMID: 29035277). 29035277
KIT D820Y melanoma sensitive SEL201 Preclinical - Cell line xenograft Actionable In a preclinical study, SEL201 inhibited MNK pathway signaling and growth of melanoma cell lines harboring KIT D820Y in culture, and suppressed tumor metastasis in xenograft models (PMID: 29035277). 29035277
KIT D820Y Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D820Y in culture (PMID: 35194937). 35194937
KIT D820Y melanoma predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, Qinlock (ripretinib) treatment resulted in a complete response in a patient with metastatic melanoma harboring KIT D820Y (PMID: 35753087; NCT02571036). 35753087