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Gene | FLT3 |
Variant | G831E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 G831E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G831E demonstrates autophosphorylation and activation of downstream signaling at similar levels to wild-type Flt3 in culture, but is also predicted to stabilize the autoinhibitory conformation of the Flt3 protein and lead to a loss of function based on structural modeling (PMID: 18068628), and therefore, its effect on Flt3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon20 FLT3 G831E |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018516C>T |
cDNA | c.2492G>A |
Protein | p.G831E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28018516C>T | c.2492G>A | p.G831E | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28018516C>T | c.2492G>A | p.G831E | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28018516C>T | c.2492G>A | p.G831E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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