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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 |
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 |
XM_017020486.2 | chr13:g.28015189_28015191delTTT | c.2504_2506delAAA | p.K835delK | RefSeq | GRCh38/hg38 |
XM_017020486 | chr13:g.28015189_28015191delTTT | c.2504_2506delAAA | p.K835delK | RefSeq | GRCh38/hg38 |
XM_011535015 | chr13:g.28015681_28015683delCCA | c.2503_2505delTGG | p.W835delW | RefSeq | GRCh38/hg38 |
XM_011535015.2 | 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 |
NM_004119.2 | chr13:g.28018503_28018505delATC | c.2503_2505delGAT | p.D835delD | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 D835del | acute myeloid leukemia | sensitive | Cytarabine + Daunorubicin + Midostaurin | FDA approved - On Companion Diagnostic | Actionable | In a Phase III trial that supported FDA approval, treatment with Rydapt (midostaurin), combined with Cytosar-U (cytarabine) and Daunorubicin, improved overall survival (74.7 mo vs 25.6 mo) in patients with FLT3-mutant (D835 and I836) or FLT3-ITD (exon 14 insertions) acute myeloid leukemia compared to Cytosar-U (cytarabine) and Daunorubicin with placebo (PMID: 28644114). | detail... 28644114 detail... |
FLT3 D835del | acute myeloid leukemia | sensitive | Gilteritinib | FDA approved - On Companion Diagnostic | Actionable | In a Phase III trial (ADMIRAL) that supported FDA approval, Xospata (gilteritinib) improved median overall survival (9.3 vs 5.6 mo, HR. 0.64, p<0.001) compared to chemotherapy, resulted in superior median event-free survival (2.8 vs 0.7 mo, HR 0.79) and rate of complete remission with full or partial hematologic recovery (34.0% vs 15.3%) in patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (ITD), D835, or I836 mutation (PMID: 31665578; NCT02421939). | 31665578 detail... detail... |