KIT T670E

Variant type

missense mutation

Location

Chromosome 4

Exon

8

Protein change

p.T670E

cDNA change

-

Genomic coordinate

Chromosome 4

FATHMM prediction

-

Variant category

I

Variant description

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).

Variant frequence

This section displays the distribution of mutated samples and tissue types (top 5).

Accoiciated drug