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| Gene | FLT3 |
| Variant | R595_E596insDYVDFR |
| Impact List | insertion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 R595_E596insDYVDFR results in the insertion of six amino acids in the juxtamembrane domian of the Flt3 protein between amino acids 595 and 596 (PMID: 14759363). R595_E596insDYVDFR has not been biochemically characterized, but is predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 R595_E596insDYVDFR FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 R595_E596insDYVDFR |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034133_28034134insCCTAAAGTCTACATAGTC |
| cDNA | c.1787_1788insCTATGTAGACTTTAGGGA |
| Protein | p.R595_E596insDYVDFR |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.3 | chr13:g.28034133_28034134insCCTAAAGTCTACATAGTC | c.1787_1788insCTATGTAGACTTTAGGGA | p.R595_E596insDYVDFR | RefSeq | GRCh38/hg38 |
| NM_004119.2 | chr13:g.28034133_28034134insCCTAAAGTCTACATAGTC | c.1787_1788insCTATGTAGACTTTAGGGA | p.R595_E596insDYVDFR | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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