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Gene FLT3
Variant R595_L601dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions FLT3 R595_L601dup (also referred to as FLT3 L601_K602insREYEYDL) indicates the insertion of seven duplicate amino acids, arginine (R)-595 through leucine(L)-601, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). R595_L601dup results in constitutive phosphorylation of Flt3, activation of Stat5 and Erk signaling, transformation of cells in culture, and induction of myeloproliferative disorder in mouse models (PMID: 18068628, PMID: 11756186).
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 R595_L601dup

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 R595_L601dup

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Transcript NM_004119.3
gDNA chr13:g.28034116_28034136
cDNA c.1783_1803
Protein p.R595_L601
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119 chr13:g.28034115_28034116insAAGGTCATACTCATACTCCCT c.1804_1805insGGGAGTATGAGTATGACCTTA p.R595_L601dup RefSeq GRCh38/hg38
NM_004119.3 chr13:g.28034116_28034136 c.1783_1803 p.R595_L601 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FLT3 R595_L601dup acute myeloid leukemia sensitive Tandutinib Preclinical Actionable In a preclinical study, tandutinib (CT53518) inhibited cell proliferation in cell culture and in mouse models carrying FLT3 L601_K602insREYEYDL (PMID: 12124172). 12124172