KIT V560G
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
XM_005265741 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
XM_005265740 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_000222.3 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
XM_017008178 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_001385284.1 chr4:g.54727444T>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_000222 chr4:g.54727447T>G c.1679T>G p.V560G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447T>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 Advanced Solid Tumor sensitive Nilotinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT V560G demonstrated inhibition of cell proliferation and tumor regression both in culture and in vivo when treated with Tasigna (nilotinib) (PMID: 20442311). 20442311
KIT V560G Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT V560G demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT V560G mast-cell leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of mast cell leukemia cells harboring KIT V560G in culture (PMID: 29093181). 29093181
KIT V560G mast cell neoplasm sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Regorafenib Preclinical - Cell culture Actionable In a preclinical study, Stivarga (regorafenib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G mast cell neoplasm sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175). 31085175
KIT V560G Advanced Solid Tumor predicted - sensitive IDRX-42 Preclinical - Biochemical Actionable In a preclinical study, IDRX-42 inhibited kinase activity of KIT V560G in an vitro assay (PMID: 40018846). 40018846