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Gene | FLT3 |
Variant | S840_N841insGS |
Impact List | insertion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 S840_N841insGS results in the insertion of two amino acids in the protein kinase domain of the Flt3 protein between amino acids 840 and 841 (UniProt.org). S840_N841insGS results in constitutive phosphorylation Flt3 and transformation of cultured cells (PMID: 12384447). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 S840_N841insGS FLT3 mutant FLT3 exon20 FLT3 S840_N841insGS |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018488_28018489insCTACCG |
cDNA | c.2520_2521insGGTAGC |
Protein | p.S840_N841insGS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |