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Gene | FLT3 |
Variant | Y693N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 Y693N lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693N 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 Y693N |
Transcript | NM_004119.3 |
gDNA | chr13:g.28027218A>T |
cDNA | c.2077T>A |
Protein | p.Y693N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28027218A>T | c.2077T>A | p.Y693N | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28027218A>T | c.2077T>A | p.Y693N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 Y693N | unknown | |
FLT3 exon 14 ins FLT3 Y693N | ||
FLT3 exon 14 ins FLT3 Y693N FLT3 D835V |