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Gene KIT
Variant R135H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions KIT R135H lies within Ig-like C2-type domain 2 of the Kit protein (UniProt.org). R135H results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT R135H

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Transcript NM_000222.3
gDNA chr4:g.54698350G>A
cDNA c.404G>A
Protein p.R135H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265742.3 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008180 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001093772 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008179 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_000222 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265742 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008178 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265740 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265741 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54698350G>A c.404G>A p.R135H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT mutant melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) treatment in patients with melanoma harboring KIT mutations resulted in an overall response rate of 26.2% (11/42), which included 11 patients with a partial response, a median duration of response of 7.1 months, and an overall survival of 18 months (PMID: 28327988; NCT01028222). 28327988
KIT mutant melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) treatment resulted in complete response in 4% (1/25), durable partial response in 16% (4/25), and stable disease in 56% (14/25) of melanoma patients harboring KIT mutations (PMID: 28843487; NCT01168050). 28843487
KIT mutant melanoma predicted - sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) treatment demonstrated manageable safety and preliminary efficacy in patients with KIT-mutated melanoma, and led to an objective response rate of 23% (6/26, 1 complete and 5 partial responses), a median progression-free survival of 7.3 months, and a median duration of response of 9.1 months (PMID: 35753087; NCT02571036). 35753087
KIT mutant gastrointestinal stromal tumor predicted - sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (exon 11, n=103; exon 9, n=26; other, n=6) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months (PMID: 32804590; NCT02571036). 32804590
KIT mutant gastrointestinal stromal tumor predicted - sensitive Ripretinib Phase I Actionable In a Phase I trial, Qinlock (ripretinib) demonstrated preliminary safety and efficacy in patients with advanced solid tumors, including KIT-mutant gastrointestinal stromal tumor (GIST), with 1 patient harboring KIT exon 11 and 17 mutations demonstrating a partial response, and 7/7 KIT-mutant GIST patients demonstrating a partial metabolic response (EORTC-NCI-AACR 2016, Abs 7LBA). detail...
KIT mutant gastrointestinal stromal tumor sensitive Imatinib + Infigratinib Preclinical - Pdx Actionable In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antitumor activity in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT mutations (PMID: 25673643). 25673643
KIT mutant gastrointestinal stromal tumor predicted - sensitive Avapritinib Phase I Actionable In a Phase I (NAVIGATOR) trial, Ayvakit (avapritinib) treatment resulted in an objective response rate of 13% (7/52, 7 partial responses) and a disease control rate of 63% (33/52) in patients with KIT-mutant gastrointestinal stromal tumor (The CTOS 2018 Annual Meeting, Nov 14-17, Rome Italy, Paper 012 3027631; NCT02508532). detail...
KIT mutant gastrointestinal stromal tumor not applicable N/A Clinical Study Diagnostic KIT mutations are used in the diagnosis of gastrointestinal stromal tumors (PMID: 25193432, PMID: 26276366, PMID: 25729899). 25193432 26276366 25729899