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Gene | FLT3 |
Variant | F590_R595delinsL |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 F590_R595delinsL results in a deletion of six amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 595, combined with the insertion of a leucine (L) at the same site (UniProt.org). F590_R595delinsL results in increased Flt3 phosphorylation and downstream signaling in patient cells (PMID: 34660293), and can be 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 F590_R595delinsL FLT3 mutant FLT3 exon14 FLT3 F590_R595delinsL |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034135_28034149del15 |
cDNA | c.1770_1784del15 |
Protein | p.F590_R595delinsL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28034135_28034149del15 | c.1770_1784del15 | p.F590_R595delinsL | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034135_28034149del15 | c.1770_1784del15 | p.F590_R595delinsL | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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