Gene Variant Detail

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Gene KIT
Variant V560G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V560G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V560G confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit and activation of the Jak/Stat pathway (PMID: 7691885, PMID: 23777495, PMID: 31484543), and leads to mislocalization of Kit to endolysosomes in cell culture (PMID: 31484543).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V560G

KIT mutant KIT exon11 KIT V560G

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Transcript NM_000222.3
gDNA chr4:g.54727447T>G
cDNA c.1679T>G
Protein p.V560G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727444T>G c.1679T>G p.V560G RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560G KIT D816V mast-cell leukemia sensitive Dasatinib Preclinical Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis in a mast-cell leukemia cell line harboring both KIT V560G and KIT D816V in culture (PMID: 18024392). 18024392
KIT V560G KIT D816V mast-cell leukemia sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited growth of a human mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 24552773). 24552773
KIT V560G KIT D816V mast cell neoplasm resistant Quizartinib Preclinical Actionable In a preclinical study, KIT D816V conferred resistance to Quizartinib in a mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 23497317). 23497317
KIT V560G KIT D816V mast-cell leukemia sensitive BPR1J373 Preclinical - Cell culture Actionable In a preclinical study, a mast-cell leukemia cell line simultaneously harboring KIT D816V and KIT V560G was sensitive to BPR1J373 in culture, demonstrating inhibition of Kit phosphorylation and apoptotic activity (PMID: 27512117). 27512117
KIT V560G KIT D816V mast-cell leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of a mast cell leukemia cell line harboring KIT D816V and V560G in culture (PMID: 29093181). 29093181
KIT V560G KIT D816V mast cell neoplasm sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture, and inhibited tumor growth in cell line xenograft models (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Gleevec (imatinib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Sutent (sunitinib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V mast cell neoplasm resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Stivarga (regorafenib) in culture (PMID: 31085175). 31085175
KIT V560G KIT D816V Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V560G and D816V demonstrated resistance to Gleevec (imatinib) treatment in culture (PMID: 30523507). 30523507
KIT V560G KIT D816V Advanced Solid Tumor sensitive PLX9486 Preclinical - Cell culture Actionable In a preclinical study, PLX9486 treatment inhibited proliferation of Gleevec (imatinib)-resistant transformed cells expressing KIT V560G and D816V in culture (PMID: 30523507). 30523507