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Gene | FLT3 |
Variant | Y693C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 Y693C lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693C has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 32040554, PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 exon17 FLT3 Y693C |
Transcript | NM_004119.3 |
gDNA | chr13:g.28027217T>C |
cDNA | c.2078A>G |
Protein | p.Y693C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28027217T>C | c.2078A>G | p.Y693C | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28027217T>C | c.2078A>G | p.Y693C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 Y693C | unknown | |
FLT3 exon 14 ins FLT3 Y693C | ||
FLT3 exon 14 ins FLT3 Y693C FLT3 D835V |