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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: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 exon20 FLT3 D839H |
Transcript | NM_004119.3 |
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_004119.3 | chr13:g.28018493C>G | c.2515G>C | p.D839H | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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