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Gene | FLT3 |
Variant | I836del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 I836del results in the deletion of an amino acid in the protein kinase domain activation loop of the Flt3 protein at amino acid 836 (PMID: 12663439). I836del 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 I836del FLT3 mutant FLT3 exon20 FLT3 I836del |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018500_28018502delGAT |
cDNA | c.2508_2510delCAT |
Protein | p.I836delI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |