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Gene FLT3
Variant D839H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FLT3 D839H lies within the protein kinase domain of the Flt3 protein (UniProt.org). D839H has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 19318574, PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2022).
Associated Drug Resistance Y
Category Variants Paths

FLT3 mutant FLT3 exon20 FLT3 D839H

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Transcript NM_004119.2
gDNA chr13:g.28018493C>G
cDNA c.2515G>C
Protein p.D839H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119 chr13:g.28018493C>G c.2515G>C p.D839H RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28018493C>G c.2515G>C p.D839H RefSeq GRCh38/hg38

Filtering

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  • 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 exon 14 ins FLT3 D839H Advanced Solid Tumor resistant Pexidartinib Preclinical Actionable In a preclinical study, transformed cells expressing FLT3-ITD along with FLT3 D839H were resistant to PLX3397 in culture (PMID: 25847190). 25847190
FLT3 exon 14 ins FLT3 D839H hematologic cancer sensitive Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, Xospata (gilteritinib) resulted in reduced cell viability in transformed cells expressing FLT3 ITD with FLT3 D839H in culture (PMID: 32040554). 32040554
FLT3 exon 14 ins FLT3 M837G FLT3 S838R FLT3 D839H leukemia predicted - resistant Pexidartinib Case Reports/Case Series Actionable In a clinical case study, a leukemia patient with FLT3-ITD positive leukemia initially responded to Pexidartinib (PLX3397), but experienced relapse after emergence of a compound FLT3 M837G/S838R/D839H mutation on the FLT3-ITD allele (PMID: 25847190). 25847190