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Gene | KIT |
Variant | N822K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT N822K lies within the activation loop in the protein kinase domain of the Kit protein (PMID: 24205792). N822K results in constitutive activation of Kit, increased Erk1/2 and Stat3 phosphorylation, is transforming in culture (PMID: 24205792, PMID: 31484543), leads to mislocalization of Kit to endolysosomes (PMID: 31484543), and has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT act mut KIT N822K KIT mutant KIT exon17 KIT N822K |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733174T>G |
cDNA | c.2466T>G |
Protein | p.N822K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385290.1 | chr4:g.54733174T>G | c.2466T>G | p.N822K | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733174T>G | c.2466T>G | p.N822K | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733174T>G | c.2466T>G | p.N822K | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733174T>G | c.2466T>G | p.N822K | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733174T>G | c.2466T>G | p.N822K | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733174T>G | c.2466T>G | p.N822K | RefSeq | GRCh38/hg38 |