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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 | chr13:g.28018504T>A | c.2504A>T | p.D835V | RefSeq | GRCh38/hg38 |
| 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 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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