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Gene FLT3
Variant D839G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FLT3 D839G lies within the protein kinase domain activation loop of the Flt3 protein (UniProt.org). D839G results in constitutive phosphorylation of Flt3, activation of Akt and Mapk signaling, leading to transformation of cultured cells (PMID: 24608088), and has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190).
Associated Drug Resistance Y
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 D839G

FLT3 mutant FLT3 exon20 FLT3 D839G

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Transcript NM_004119.3
gDNA chr13:g.28018492T>C
cDNA c.2516A>G
Protein p.D839G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119 chr13:g.28018492T>C c.2516A>G p.D839G RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28018492T>C c.2516A>G p.D839G RefSeq GRCh38/hg38
NM_004119.3 chr13:g.28018492T>C c.2516A>G p.D839G 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FLT3 D839G hematologic cancer sensitive Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, Xospata (gilteritinib) resulted in reduced cell viability in transformed cells expressing FLT3 D839G in culture (PMID: 32040554). 32040554