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Gene | FLT3 |
Variant | D835L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 D835L lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835L results in IL3-independent growth in culture (PMID: 28077790), and therefore, is predicted to lead to a gain of Flt3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 D835L FLT3 mutant FLT3 exon20 FLT3 D835X FLT3 D835L |
Transcript | NM_004119.2 |
gDNA | chr13:g.28018504_28018505delGAinsCT |
cDNA | c.2503_2504delGAinsCT |
Protein | p.D835L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28018504_28018505delGAinsCT | c.2503_2504delGAinsCT | p.D835L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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