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Gene CSF3R
Variant S786Lfs*2
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CSF3R S786Lfs*2 indicates a shift in the reading frame starting at amino acid 786 and terminating 2 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S786Lfs*2 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R S786Lfs*2

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Transcript NM_000760.4
gDNA chr1:g.36466510_36466511delGG
cDNA c.2357_2358delCC
Protein p.S786Lfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.4 chr1:g.36466510_36466511delGG c.2357_2358delCC p.S786Lfs*2 RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466510_36466511delGG c.2357_2358delCC p.S786Lfs*2 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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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