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
NM_000222.2 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_005265740 chr4:g.54727444T>A c.1679T>A p.V560D RefSeq GRCh38/hg38
XM_017008178 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
NM_001385284.1 chr4:g.54727444T>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_005265741 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
XM_017008178.1 chr4:g.54727447T>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_005265741.1 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 KIT D820A gastrointestinal stromal tumor resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT V560D mutation, who developed resistance to Gleevec (imatinib mesylate) (PMID: 16954519). 16954519
KIT V560D KIT D820A gastrointestinal stromal tumor resistant Imatinib Preclinical Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560D and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 16954519). 16954519
KIT V560D KIT D820A gastrointestinal stromal tumor resistant Sunitinib Preclinical Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560D and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 18955458). 18955458
KIT V560D KIT D820A Advanced Solid Tumor decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D820A Advanced Solid Tumor sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) treatment resulted in decreased viability of transformed cells expressing KIT V560D and KIT D820A in culture, but was less effective compared to other treatments (PMID: 32350132). 32350132
KIT V560D KIT D820A gastrointestinal stromal tumor predicted - sensitive Imatinib + Infigratinib Preclinical - Cell line xenograft Actionable In a preclinical study, combination treatment with Gleevec (imatinib) and Truseltiq (infigratinib) treatment resulted in tumor shrinkage in a gastrointestinal stromal tumor cell line xenograft model harboring KIT V560D and KIT D820A (PMID: 35625872). 35625872
KIT V560D KIT T670I 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 a KIT V560D/T670I double mutation in culture (PMID: 20633291). 20633291
KIT V560D KIT T670I Advanced Solid Tumor resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V560D and KIT T670I were resistant to Flumatinib in culture (PMID: 24205792). 24205792
KIT V560D KIT V654A 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 a KIT V560D/V654A double mutation in culture (PMID: 20633291). 20633291
KIT V560D KIT V654A Advanced Solid Tumor resistant Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V560D and KIT V654A were resistant to Flumatinib in culture (PMID: 24205792). 24205792
KIT V560D KIT V654A Advanced Solid Tumor decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT V560D and KIT V654A demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 31270078). 31270078
KIT V560D KIT V654A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated sensitivity to Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated resistance to treatment with Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT V560D KIT V654A Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132). 32350132
KIT V560D KIT D816H Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT V560D KIT D820G KIT N822K KIT Y870* gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT N822K and KIT D820G were identified as secondary resistance mutations in a patient with a gastrointestinal stromal tumor harboring primary KIT Y870* and V560D mutations who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) treatment (PMID: 35041493; NCT01991379). 35041493
KIT V560D KIT D579G KIT D816N melanoma predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, Qinlock (ripretinib) treatment resulted in a partial response in a patient with metastatic melanoma harboring KIT D579G, V560D, and D816N (PMID: 35753087; NCT02571036). 35753087