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Gene | CSF3R |
Variant | F792* |
Impact List | nonsense |
Protein Effect | gain of function |
Gene Variant Descriptions | CSF3R F792* results in a premature truncation of the Csf3r protein at amino acid 792 of 836 (UniProt.org). F792* results in increased cell surface Csf3r expression, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R F792* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466492_36466493delTCinsAA |
cDNA | c.2375_2376delTCinsAA |
Protein | p.F792* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.4 | chr1:g.36466492_36466493delTCinsAA | c.2375_2376delTCinsAA | p.F792* | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36466492_36466493delGAinsTT | c.2375_2376delTCinsAA | p.F792* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466492_36466493delTCinsAA | c.2375_2376delTCinsAA | p.F792* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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