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Gene | FLT3 |
Variant | N701K |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 N701K lies within the protein kinase domain of the Flt3 protein (UniProt.org). N701K results in transformation activity and has been associated with resistance to some FLT3 inhibitors in the context of FLT3-ITD in cultured cells (PMID: 33780043), and therefore, is predicted to lead to a gain of Flt3 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 N701K FLT3 mutant FLT3 exon17 FLT3 N701K |
Transcript | NM_004119.3 |
gDNA | chr13:g.28027192G>C |
cDNA | c.2103C>G |
Protein | p.N701K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28027192G>C | c.2103C>G | p.N701K | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28027192G>C | c.2103C>G | p.N701K | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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