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Gene | FLT3 |
Variant | D839N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 D839N lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). D839N 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 D839N |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018493C>T |
cDNA | c.2515G>A |
Protein | p.D839N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28018493C>T | c.2515G>A | p.D839N | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28018493C>T | c.2515G>A | p.D839N | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28018493C>T | c.2515G>A | p.D839N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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