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| Gene | KIT |
| Variant | N655K |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | KIT N655K lies within tyrosine kinase domain 1 (exon 13) of the Kit protein (PMID: 17555444). N655K results in constitutive phosphorylation of Kit in cell culture (PMID: 17489795), and therefore, is predicted to lead to a gain of Kit protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT act mut KIT N655K KIT mutant KIT exon13 KIT N655K |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54728096T>G |
| cDNA | c.1965T>G |
| Protein | p.N655K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017008178 | chr4:g.54728096T>G | c.1965T>G | p.N655K | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54728096T>G | c.1965T>G | p.N655K | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54728096T>G | c.1965T>G | p.N655K | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54728096T>G | c.1965T>G | p.N655K | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54728096T>G | c.1965T>G | p.N655K | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54728096T>G | c.1965T>G | p.N655K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| KIT N655K | gain of function - predicted | KIT Inhibitor |
| KIT N655K KIT D816V |