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).

CancerDISSECT gene frequenceDISSECT variant frequenceCOSMIC gene frequenceCOSMIC variant frequence
No data available.

Accoiciated drug

CancerDurgDrug typeDrug groupsEvidence level
No data available.