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Gene | FLT3 |
Variant | S941_F942insRVS |
Impact List | insertion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 S941_F942insRVS results in the insertion of three amino acids in the protein kinase domain of the Flt3 protein between amino acids 941 and 942 (UniProt.org). S941_F942insRVS results in increased Flt3 phosphorylation in culture (PMID: 37246158), 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 S941_F942insRVS FLT3 mutant FLT3 exon23 FLT3 S941_F942insRVS |
Transcript | NM_004119.2 |
gDNA | chr13:g.28014487_28014488insGCTTACCCT |
cDNA | c.2823_2824insAGGGTAAGC |
Protein | p.S941_F942insRVS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28014487_28014488insGCTTACCCT | c.2823_2824insAGGGTAAGC | p.S941_F942insRVS | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 S941_F942insRVS | gain of function - predicted | FLT3 Inhibitor |