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Gene | FLT3 |
Variant | Y591* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FLT3 Y591* results in a premature truncation of the Flt3 protein at amino acid 591 of 993 (UniProt.org). Y591* results in loss of kinase activity in culture (PMID: 37246158), and therefore, is predicted to lead to a loss of Flt3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon14 FLT3 Y591* FLT3 mutant FLT3 inact mut FLT3 Y591* |
Transcript | NM_004119.2 |
gDNA | chr13:g.28034146G>T |
cDNA | c.1773C>A |
Protein | p.Y591* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034146G>T | c.1773C>A | p.Y591* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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