Gene Variant Detail

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Gene KIT
Variant L576P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT L576P lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576P confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit, and is transforming in cell culture (PMID: 17372901).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT L576P

KIT mutant KIT exon11 KIT L576P

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Transcript NM_000222.2
gDNA chr4:g.54727495T>C
cDNA c.1727T>C
Protein p.L576P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727495T>C c.1727T>C p.L576P RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT L576P melanoma predicted - sensitive Bevacizumab + Sorafenib Case Reports/Case Series Actionable In a Phase I trial, a melanoma patient harboring KIT L576P demonstrated sensitivity to the combination treatment of Nexavar (sorafenib) and Avastin (bevacizumab), resulting in a partial response for 8 months (PMID: 25363205). 25363205
KIT L576P melanoma sensitive Dasatinib Case Reports/Case Series Actionable In a clinical study, two patients with melanoma harboring KIT L576P, one who had progressed on Gleevec (imatinib), demonstrated initial clinical benefit following treatment with Sprycel (dasatinib); however, one patient progressed after 3 months, and the other patient progressed after 4 months of treatment (PMID: 19671763). 19671763
KIT L576P melanoma sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited MNK pathway activation and proliferation of melanoma cell lines harboring KIT L576P in culture (PMID: 29035277). 29035277
KIT L576P melanoma unknown Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in initial tumor reduction, but was followed by disease progression at all tumor sites in a patient with metastasized labial melanoma harboring KIT L576P (PMID: 20372153). 20372153
KIT L576P 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 three melanoma patients harboring KIT L576P demonstrating a partial response (PMID: 28327988). 28327988
KIT L576P melanoma sensitive SEL201 Preclinical - Cell line xenograft Actionable In a preclinical study, SEL201 inhibited MNK pathway signaling and growth of melanoma cells harboring KIT L576P in culture, and suppressed tumor metastasis in xenograft models (PMID: 29035277). 29035277
KIT L576P Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT L576P in culture (PMID: 31205508). 31205508
KIT L576P Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937). 35194937
KIT L576P Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937). 35194937
KIT L576P Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937). 35194937
KIT L576P melanoma predicted - sensitive Ripretinib Case Reports/Case Series Actionable In a Phase I trial, Qinlock (ripretinib) treatment resulted in a partial response in 3 of 4 patients with metastatic melanoma harboring KIT L576P (PMID: 35753087; NCT02571036). 35753087