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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 |