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Gene KIT
Variant V559A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V559A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15837988). V559A results in constitutive phosphorylation of Kit and increased Mapk and Akt activation in patient samples and cultured cells (PMID: 15837988, PMID: 19047099).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V559A

KIT mutant KIT exon11 KIT V559X KIT V559A

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Transcript NM_000222.3
gDNA chr4:g.54727444T>C
cDNA c.1676T>C
Protein p.V559A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727444T>C c.1676T>C p.V559A RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727444T>C c.1676T>C p.V559A RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727444T>C c.1676T>C p.V559A RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727444T>C c.1676T>C p.V559A RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727444T>C c.1676T>C p.V559A RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727444T>C c.1676T>C p.V559A 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")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V559A Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559A in culture (PMID: 31205508). 31205508
KIT V559A melanoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment in a patient with metastatic melanoma resulted in regression of the lung metastasis, which harbored KIT V559A; however, neither the primary tumor or lymph node metastasis responded, which had wild-type KIT (PMID: 19812602). 19812602
KIT V559A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT V559A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT V559A melanoma predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41), including a melanoma patient harboring KIT V559A demonstrating a partial response and progression-free survival of 19.4 months and overall survival of 32.9 months (PMID: 28327988). 28327988