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Gene | KIT |
Variant | D816G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT D816G lies within the protein kinase domain of the Kit protein (UniProt.org). D816G results in constitutive phosphorylation of Kit, is transforming in culture, and confers resistance to crizotinib (PMID: 27068398). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT D816G KIT mutant KIT exon17 KIT D816X KIT D816G |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733155A>G |
cDNA | c.2447A>G |
Protein | p.D816G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001093772 | chr4:g.54733167A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733155A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733155A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733155A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54733167A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733155A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733155A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54733167A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54733167A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54733167A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54733167A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733155A>G | c.2447A>G | p.D816G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT W557_K558del KIT D816G | Advanced Solid Tumor | resistant | Ponatinib | Preclinical | Actionable | In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). | 25239608 |
KIT W557_K558del KIT D816G | Advanced Solid Tumor | resistant | Sunitinib | Preclinical | Actionable | In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608). | 25239608 |
KIT W557_K558del KIT D816G | Advanced Solid Tumor | resistant | Imatinib | Preclinical | Actionable | In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). | 25239608 |
KIT W557_K558del KIT D816G | Advanced Solid Tumor | resistant | Regorafenib | Preclinical | Actionable | In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). | 25239608 |
ROS1 fusion KIT D816G | lung non-small cell carcinoma | predicted - resistant | Crizotinib | Case Reports/Case Series | Actionable | In a clinical study, a non-small cell lung carcinoma patient harboring a ROS1 fusion developed resistance to treatment with Xalkori (crizotinib) and was subsequently found to have acquired KIT D816G (PMID: 29636358). | 29636358 |
KIT exon 11 del KIT D816G | Advanced Solid Tumor | predicted - sensitive | THE-630 | Preclinical - Cell culture | Actionable | In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D816G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). | detail... |
KIT exon 9 ins KIT D816G | Advanced Solid Tumor | predicted - sensitive | THE-630 | Preclinical - Cell culture | Actionable | In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 9 insertion and KIT D816G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292). | detail... |