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Gene CSF3R
Variant S783fs
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R S783fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 783 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). S783fs does not result in increased Stat3 activation (PMID: 23656643, PMID: 24403076), however, results in increased Src activation and transformation in cell culture (PMID: 23656643), and therefore, is predicted to result in a gain of Csf3r protein function.
Associated Drug Resistance

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Transcript NM_000760
gDNA chr1:g.(36466521_36466522)
cDNA c.(2347_2346)
Protein p.S783fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760 chr1:g.(36466521_36466522) c.(2347_2346) p.S783fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Pyridone 6 Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Pyridone 6 (CMP6) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - sensitive Dasatinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs demonstrated sensitive to treatment with Sprycel (dasatinib) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Xeljanz (tofacitinib) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Momelotinib (CYT387) in culture (PMID: 23656643). 23656643
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
Molecular Profile Protein Effect Treatment Approaches
CSF3R S783fs gain of function - predicted