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| Gene | KIT |
| Variant | T670I |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | KIT T670I lies within the ATP pocket in the protein kinase domain of the Kit protein (PMID: 15236194, PMID: 22355224). T670I confers a gain of function on Kit as indicated by constitutive Kit phosphorylation, is transforming in cultured cells, and is associated with resistance to Kit inhibitors (PMID: 17699867, PMID: 15236194). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
KIT mutant KIT act mut KIT T670I KIT mutant KIT exon14 KIT T670X KIT T670I |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54729353C>T |
| cDNA | c.2009C>T |
| Protein | p.T670I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222.2 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT04771520 | Phase II | Avapritinib | Avapritinib for the Treatment of CKIT or PDGFRA Mutation-Positive Locally Advanced or Metastatic Malignant Solid Tumors | Recruiting | USA | 0 |
| NCT01738139 | Phase I | Imatinib + Ipilimumab | Ipilimumab and Imatinib Mesylate in Advanced Cancer | Completed | USA | 0 |