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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 |
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_004119.3 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 D839G | gain of function | FLT3 Inhibitor |
FLT3 exon 14 ins FLT3 F691L FLT3 D839G | ||
FLT3 exon 14 ins FLT3 D839G |