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@jax.org
Gene | FLT3 |
Variant | E598_F612dup |
Impact List | duplication |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 E598_F612dup indicates the insertion of 15 duplicate amino acids, glutamic acid (E)-598 through phenylalanine (F)-612, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). E598_F612dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 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 E598_F612dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 E598_F612dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034083_28034127 |
cDNA | c.1792_1836 |
Protein | p.E598_F612 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28033992_28033993insAAACTCAAGGTTCTCCCTAGGAAACTCCCACTTAAGGTCATACTC | c.1838-1_1838insAGTATGACCTTAAGTGGGAGTTTCCTAGGGAGAACCTTGAGTTTG | p.E598_F612dup | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034083_28034127 | c.1792_1836 | p.E598_F612 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|