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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*

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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_000760.3 chr1:g.36466492_36466493delTCinsAA c.2375_2376delTCinsAA p.F792* RefSeq GRCh38/hg38
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

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References