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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 |
---|---|---|---|---|---|
XM_011535015.3 | chr13:g.28015681_28015683delCCA | c.2503_2505delTGG | p.W835delW | 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 |
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_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_017020486 | chr13:g.28015189_28015191delTTT | c.2504_2506delAAA | p.K835delK | 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 |
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