KIT N822K

Variant type

missense mutation

Location

Chromosome 17

Exon

8

Protein change

p.N822K

cDNA change

-

Genomic coordinate

Chromosome 17

FATHMM prediction

-

Variant category

I

Variant description

The N822K mutation occurs within the KIT activation loop (exon 17) and results in an amino acid exchange at codon 822 from asparagine (N) to lysine (K). It is an activating mutation in FLT3 that confers resistance to imatinib (PMID: 22301675;21482694;17699867;23497317).

Variant frequence

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

Accoiciated drug