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| Gene | KIT |
| Variant | D419G |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | KIT D419G lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). D419G does not result in Kit phosphorylation and is not transforming in cultured cells (PMID: 31182436), and therefore, is predicted to have no effect on Kit protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon8 KIT D419G |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54723608A>G |
| cDNA | c.1256A>G |
| Protein | p.D419G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001093772 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| XM_017008180.1 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| XM_017008178 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| NM_001385285.1 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| NM_001093772.1 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| NM_001385286.1 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| XM_017008180 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| NM_001093772.2 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| XM_017008178.1 | chr4:g.54723608A>G | c.1256A>G | p.D419G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| KIT D419G | hematologic cancer | no benefit | Crenolanib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing KIT D419G did not respond to treatment with Crenolanib in culture (PMID: 31182436). | 31182436 |
| KIT D419G | hematologic cancer | no benefit | Dasatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing KIT D419G did not respond to treatment with Sprycel (dasatinib) in culture (PMID: 31182436). | 31182436 |