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| Gene | KIT |
| Variant | L813_A814insHIV |
| Impact List | insertion |
| Protein Effect | unknown |
| Gene Variant Descriptions | KIT L813_A814insHIV results in the insertion of three amino acids in the protein kinase domain of the Kit protein between amino acids 813 and 814 (UniProt.org). L813_A814insHIV has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, May 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KIT mutant KIT exon17 KIT L813_A814insHIV |
| Transcript | NM_000222.3 |
| gDNA | chr4:g.54733147_54733148insCATATCGTA |
| cDNA | c.2439_2440insCATATCGTA |
| Protein | p.L813_A814insHIV |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000222 | chr4:g.54733147_54733148insCATATCGTA | c.2439_2440insCATATCGTA | p.L813_A814insHIV | RefSeq | GRCh38/hg38 |
| NM_001385290.1 | chr4:g.54733147_54733148insCATATCGTA | c.2439_2440insCATATCGTA | p.L813_A814insHIV | RefSeq | GRCh38/hg38 |
| XM_005265741.1 | chr4:g.54733147_54733148insCATATCGTA | c.2439_2440insCATATCGTA | p.L813_A814insHIV | RefSeq | GRCh38/hg38 |
| NM_000222.3 | chr4:g.54733147_54733148insCATATCGTA | c.2439_2440insCATATCGTA | p.L813_A814insHIV | RefSeq | GRCh38/hg38 |
| XM_005265741 | chr4:g.54733147_54733148insCATATCGTA | c.2439_2440insCATATCGTA | p.L813_A814insHIV | RefSeq | GRCh38/hg38 |
| NM_000222.2 | chr4:g.54733147_54733148insCATATCGTA | c.2439_2440insCATATCGTA | p.L813_A814insHIV | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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