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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 can be predicted to lead to activation of Flt3 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_004119.2 | chr13:g.28034133_28034134insCCTAAAGTCTACATAGTC | c.1787_1788insCTATGTAGACTTTAGGGA | p.R595_E596insDYVDFR | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034133_28034134insCCTAAAGTCTACATAGTC | c.1787_1788insCTATGTAGACTTTAGGGA | p.R595_E596insDYVDFR | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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