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Gene | FLT3 |
Variant | D839A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 D839A lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D839A 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, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 exon20 FLT3 D839A |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018492T>G |
cDNA | c.2516A>C |
Protein | p.D839A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28018492T>G | c.2516A>C | p.D839A | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28018492T>G | c.2516A>C | p.D839A | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28018492T>G | c.2516A>C | p.D839A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 D839A | unknown | |
FLT3 exon 14 ins FLT3 D839A | ||
FLT3 exon 14 ins FLT3 F691L FLT3 D839A |