Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.
Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.
Stay tuned for these updates, and thank you for being part of our community!
Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FLT3 |
Variant | Y599_D600insPAPQIMSTSTLISENMNIA |
Impact List | insertion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 Y599_D600insPAPQIMSTSTLISENMNIA results in the insertion of nineteen amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (UniProt.org). Y599_D600insPAPQIMSTSTLISENMNIA has not been biochemically characterized, but can be predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 Y599_D600insPAPQIMSTSTLISENMNIA FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y599_D600insPAPQIMSTSTLISENMNIA |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034121_28034122insTGCGATGTTCATGTTCTCGCTGATAAGTGTGCTTGTGCTCATGATTTGAGGTGCAGG |
cDNA | c.1797_1798insCCTGCACCTCAAATCATGAGCACAAGCACACTTATCAGCGAGAACATGAACATCGCA |
Protein | p.Y599_D600insPAPQIMSTSTLISENMNIA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28034121_28034122insTGCGATGTTCATGTTCTCGCTGATAAGTGTGCTTGTGCTCATGATTTGAGGTGCAGG | c.1797_1798insCCTGCACCTCAAATCATGAGCACAAGCACACTTATCAGCGAGAACATGAACATCGCA | p.Y599_D600insPAPQIMSTSTLISENMNIA | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034121_28034122insTGCGATGTTCATGTTCTCGCTGATAAGTGTGCTTGTGCTCATGATTTGAGGTGCAGG | c.1797_1798insCCTGCACCTCAAATCATGAGCACAAGCACACTTATCAGCGAGAACATGAACATCGCA | p.Y599_D600insPAPQIMSTSTLISENMNIA | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28034121_28034122insTGCGATGTTCATGTTCTCGCTGATAAGTGTGCTTGTGCTCATGATTTGAGGTGCAGG | c.1797_1798insCCTGCACCTCAAATCATGAGCACAAGCACACTTATCAGCGAGAACATGAACATCGCA | p.Y599_D600insPAPQIMSTSTLISENMNIA | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|