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CSF3R S783fs - Gene Variant Detail

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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 lead to a gain of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R S783fs

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Transcript NM_000760.4
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
NM_000760.4 chr1:g.(36466521_36466522) c.(2347_2346) p.S783fs RefSeq GRCh38/hg38
NM_000760.3 chr1:g.(36466521_36466522) c.(2347_2346) p.S783fs RefSeq GRCh38/hg38

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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 - 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 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 - 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