Gene Variant Detail

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Gene KIT
Variant Y823D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT Y823D lies within the protein kinase domain of the Kit protein (UniProt.org). Y823D confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cultured cells (PMID: 14695343, PMID: 20633291).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT Y823D

KIT mutant KIT exon17 KIT Y823D

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Transcript NM_000222.2
gDNA chr4:g.54733175T>G
cDNA c.2467T>G
Protein p.Y823D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54733175T>G c.2467T>G p.Y823D RefSeq GRCh38/hg38
NM_000222 chr4:g.54733175T>G c.2467T>G p.Y823D RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733175T>G c.2467T>G p.Y823D RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733175T>G c.2467T>G p.Y823D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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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  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT Y823D Advanced Solid Tumor sensitive Motesanib Diphosphate Preclinical - Cell culture Actionable In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT Y823D in culture (PMID: 20633291). 20633291
KIT Y823D Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT Y823D in culture (PMID: 35194937). 35194937
KIT Y823D 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 Y823D (PMID: 35753087; NCT02571036). 35753087