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Gene CSF3R
Variant N818*
Impact List nonsense
Protein Effect gain of function
Gene Variant Descriptions CSF3R N818* results in a premature truncation of the Csf3r protein at amino acid 818 of 836 (UniProt.org). N818* results in increased cell surface Csf3r expression, impaired receptor degradation, and is transforming in cell culture (PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R N818*

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Transcript NM_000760.4
gDNA chr1:g.36466414_36466416delAACinsTAA
cDNA c.2452_2454delAACinsTAA
Protein p.N818*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466414_36466416delAACinsTAA c.2452_2454delAACinsTAA p.N818* RefSeq GRCh38/hg38
NM_000760 chr1:g.36466414_36466416delGTTinsTTA c.2452_2454delAACinsTAA p.N818* RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466414_36466416delAACinsTAA c.2452_2454delAACinsTAA p.N818* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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
CSF3R mutant bone marrow cancer not applicable N/A Clinical Study Emerging In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). 24081659 23656643 24441292