Gene Variant Detail

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Gene KIT
Variant V560D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V560D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 19164557). V560D confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 16954519, PMID: 20633291, PMID: 27440273) despite reduced expression, enhanced degradation, and cellular mislocalization (PMID: 27440273).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V560D

KIT mutant KIT exon11 KIT V560D

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Transcript NM_000222.3
gDNA chr4:g.54727447T>A
cDNA c.1679T>A
Protein p.V560D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560D Advanced Solid Tumor sensitive Sorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D were sensitive to Nexavar (sorafenib) in culture (PMID: 22665524). 22665524
KIT V560D Advanced Solid Tumor sensitive Dasatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D were sensitive to Sprycel (dasatinib) in culture (PMID: 16397263). 16397263
KIT V560D Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D Advanced Solid Tumor sensitive Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Stivarga (regorafineb) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT V560D 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 V560D demonstrating a partial response and progression free survival of 8.6 months and overall survival of 23.5 months (PMID: 28327988). 28327988
KIT V560D 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 V560D in culture (PMID: 20633291). 20633291
KIT V560D gastrointestinal stromal tumor predicted - sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D were sensitive to treatment with Ayvakit (avapritinib) in culture, demonstrating decreased cell growth (PMID: 31270078). 31270078
KIT V560D Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased cell viability in transformed cells expressing KIT V560D in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT V560D Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment had manageable toxicity and resulted in a 95% pathological response and 6% RECIST response in a patient with gastrointestinal stromal tumor of the stomach harboring KIT V560D (PMID: 35041493; NCT01991379). 35041493