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Gene | FLT3 |
Variant | N676D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 N676D lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676D has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 22875611, PMID: 15374944), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 exon16 FLT3 N676D |
Transcript | NM_004119.3 |
gDNA | chr13:g.28028205T>C |
cDNA | c.2026A>G |
Protein | p.N676D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28028205T>C | c.2026A>G | p.N676D | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28028205T>C | c.2026A>G | p.N676D | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28028205T>C | c.2026A>G | p.N676D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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