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| Gene | FLT3 |
| Variant | D835del |
| Impact List | deletion |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FLT3 D835del results in the deletion of an amino acid from the activation loop in the protein kinase domain of the Flt3 protein at amino acid 835 (PMID: 25837374). D835del results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 D835del FLT3 mutant FLT3 exon20 FLT3 D835del |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28018503_28018505delATC |
| cDNA | c.2503_2505delGAT |
| Protein | p.D835delD |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.3 | chr13:g.28018503_28018505delATC | c.2503_2505delGAT | p.D835delD | RefSeq | GRCh38/hg38 |
| XM_011535015 | chr13:g.28015681_28015683delCCA | c.2503_2505delTGG | p.W835delW | RefSeq | GRCh38/hg38 |
| XM_011535015.3 | chr13:g.28015681_28015683delCCA | c.2503_2505delTGG | p.W835delW | RefSeq | GRCh38/hg38 |
| XM_017020486 | chr13:g.28015189_28015191delTTT | c.2504_2506delAAA | p.K835delK | RefSeq | GRCh38/hg38 |
| XM_011535015.2 | chr13:g.28015681_28015683delCCA | c.2503_2505delTGG | p.W835delW | RefSeq | GRCh38/hg38 |
| NM_004119.2 | chr13:g.28018503_28018505delATC | c.2503_2505delGAT | p.D835delD | RefSeq | GRCh38/hg38 |
| XM_017020486.2 | chr13:g.28015189_28015191delTTT | c.2504_2506delAAA | p.K835delK | RefSeq | GRCh38/hg38 |
| NM_004119 | chr13:g.28018503_28018505delATC | c.2503_2505delGAT | p.D835delD | RefSeq | GRCh38/hg38 |
| XM_017020486.1 | chr13:g.28015189_28015191delTTT | c.2504_2506delAAA | p.K835delK | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FLT3 D835del | gain of function | FLT3 Inhibitor |
| FLT3 exon 14 ins FLT3 D835del |