missense mutation
Chromosome 4
8
p.T670E
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Chromosome 4
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I
The T670E mutation results in an amino acid substitution at position 670 of KIT (exon 14), from a threonine (T) to a isoleucine (I). Substitution of the gatekeeper threonine residue with isoleucine causes KIT kinase activation that are intrinsically resistant to imatinib binding (PMID: 17699867; 17545544; 18794843).
This section displays the distribution of mutated samples and tissue types (top 5).
Cancer | DISSECT gene frequence | DISSECT variant frequence | COSMIC gene frequence | COSMIC variant frequence |
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No data available. |
Cancer | Durg | Drug type | Drug groups | Evidence level |
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No data available. |