Gene | KIT |
Variant | missense |
Amino Acid Change | V654A |
DNA Change (Coding Nucleotide) | 1961T>C |
Transcript ID (GRCh37/hg19) | ENST00000288135 |
Codon | 654 |
Exon | 13 |
Genomic Coordinates (GRCh37/hg19) | 4:55594258-55594258 |
COSMIC ID | 12706 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
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The V654A c-KIT kinase domain mutation has been associated with imatinib-resistant GIST relapse, representing about 47% of all GIST secondary mutations. GIST harboring KIT V654A is still sensitive to Sunitinib and Sorafenib. drug: Nilotinib, Sunitinib