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Gene | FLT3 |
Variant | D835V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 D835V lies within the protein kinase domain activation loop of the Flt3 protein (PMID: 11290608). D835V results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420), and has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 22504184, PMID: 29187377). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 D835V FLT3 mutant FLT3 exon20 FLT3 D835X FLT3 D835V |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018504T>A |
cDNA | c.2504A>T |
Protein | p.D835V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28018504T>A | c.2504A>T | p.D835V | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28018504T>A | c.2504A>T | p.D835V | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28018504T>A | c.2504A>T | p.D835V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 D835V | gain of function | FLT3 Inhibitor |
FLT3 exon 14 ins FLT3 D835V | ||
FLT3 exon 14 ins FLT3 F691L FLT3 D835V | ||
FLT3 exon 14 ins FLT3 D698N FLT3 D835V | ||
FLT3 exon 14 ins FLT3 Y693C FLT3 D835V | ||
FLT3 exon 14 ins FLT3 G697S FLT3 D835V | ||
FLT3 exon 14 ins FLT3 Y693N FLT3 D835V |