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Gene KIT
Variant K509I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT K509I lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). K509I results in constitutive phosphorylation of Kit, increased cell proliferation, and growth factor independent survival in cell culture (PMID: 19865100).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT K509I

KIT mutant KIT exon9 KIT K509I

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Transcript NM_000222.3
gDNA chr4:g.54726036A>T
cDNA c.1526A>T
Protein p.K509I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_000222 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K509I mastocytosis sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in symptom improvements, liver size reduction, and decrease of enzymatic markers in a patient with familial mastocytosis harboring a germline KIT K509I mutation and inhibited growth of white blood cells derived from the patient in culture (PMID: 16183119). 16183119
KIT K509I gastrointestinal stromal tumor no benefit Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease at 9 months in a patient with advanced gastrointestinal stromal tumor harboring a germline KIT K509I mutation, which was later discontinued due to adverse effects and lack of response (PMID: 23610110). 23610110
KIT K509I systemic mastocytosis sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in symptom and enzymatic improvements in 2 patients with aggressive systemic mastocytosis harboring KIT K509I, with 1 patient achieving a major response/complete remission, and inhibited growth of primary bone marrow mononuclear cells derived from both patients in culture (PMID: 25139846). 25139846
KIT K509I systemic mastocytosis sensitive Dasatinib Preclinical - Patient cell culture Actionable In a preclinical study, Sprycel (dasatinib) treatment inhibited growth and induced apoptosis of primary bone marrow mononuclear cells derived from patients with aggressive systemic mastocytosis harboring KIT K509I in culture (PMID: 25139846). 25139846
KIT K509I systemic mastocytosis predicted - sensitive Midostaurin Preclinical - Patient cell culture Actionable In a preclinical study, Rydapt (midostaurin) treatment inhibited growth but did not induce apoptosis in primary bone marrow mononuclear cells derived from patients with aggressive systemic mastocytosis harboring KIT K509I in culture (PMID: 25139846). 25139846