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Gene CSF3R
Variant S469Qfs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CSF3R S469Qfs*5 indicates a shift in the reading frame starting at amino acid 469 and terminating 5 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). Due to the loss of the transmembrane and cytoplasmic domains (UniProt.org), S469Qfs*5 is predicted to lead to a loss of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R inact mut CSF3R S469Qfs*5

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Transcript NM_000760.4
gDNA chr1:g.36469728dupG
cDNA c.1404dupC
Protein p.S469Qfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047446753.1 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
XM_011540749 chr1:g.36469722_36469723insT c.1403_1404insA p.S469Qfs*5 RefSeq GRCh38/hg38
NM_172313 chr1:g.36469722_36469723insT c.1403_1404insA p.S469Qfs*5 RefSeq GRCh38/hg38
NM_000760 chr1:g.36469722_36469723insT c.1403_1404insA p.S469Qfs*5 RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
XM_005270493 chr1:g.36469722_36469723insT c.1403_1404insA p.S469Qfs*5 RefSeq GRCh38/hg38
XM_017000370 chr1:g.36469722_36469723insT c.1403_1404insA p.S469Qfs*5 RefSeq GRCh38/hg38
XM_011540748 chr1:g.36469722_36469723insT c.1403_1404insA p.S469Qfs*5 RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
NM_156039 chr1:g.36469722_36469723insT c.1403_1404insA p.S469Qfs*5 RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36469728dupG c.1404dupC p.S469Qfs*5 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.
  • Click on any column header arrows to sort by that column
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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