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| Gene | KIT |
| Variant | D820H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT D820H lies within the protein kinase domain of the Kit protein (UniProt.org). D820H has been identified in the scientific literature (PMID: 22937135, PMID: 16741525), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon17 KIT D820H |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54733166G>C |
| cDNA | c.2458G>C |
| Protein | p.D820H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54733166G>C | c.2458G>C | p.D820H | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54733166G>C | c.2458G>C | p.D820H | RefSeq | GRCh38/hg38 |
| XM_005265741 | chr4:g.54733166G>C | c.2458G>C | p.D820H | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54733166G>C | c.2458G>C | p.D820H | RefSeq | GRCh38/hg38 |
| NM_001385290.1 | chr4:g.54733166G>C | c.2458G>C | p.D820H | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54733166G>C | c.2458G>C | p.D820H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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