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| Gene | KIT |
| Variant | D820E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT D820E lies within the protein kinase domain of the Kit protein (UniProt.org). D820E has been identified in the scientific literature (PMID: 29100343, PMID: 35194937), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon17 KIT D820E |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54733168T>G |
| cDNA | c.2460T>G |
| Protein | p.D820E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001385290.1 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
| XM_005265741 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
| NM_000222 | chr4:g.54733168T>G | c.2460T>G | p.D820E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| KIT D820E | thymic carcinoma | predicted - sensitive | Sorafenib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with metastatic thymic carcinoma harboring KIT D820E demonstrated a partial response to treatment with Nexavar (sorafenib) (PMID: 19461405). | 19461405 |
| KIT D820E | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, cells expressing KIT D820E demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). | 25239608 |
| KIT D820E | Advanced Solid Tumor | sensitive | Nintedanib | Preclinical - Cell culture | Actionable | In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT D820E in culture (PMID: 35194937). | 35194937 |
| KIT D820E | Advanced Solid Tumor | predicted - sensitive | IDRX-42 | Preclinical - Biochemical | Actionable | In a preclinical study, IDRX-42 inhibited kinase activity of KIT D820E in an vitro assay (PMID: 40018846). | 40018846 |