Gene Variant Detail

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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

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Transcript NM_004119.2
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_004119.2 chr13:g.28034135_28034149del15 c.1770_1784del15 p.F590_R595delinsL RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References