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Gene CSF3R
Variant D771fs
Impact List frameshift
Protein Effect gain of function
Gene Variant Descriptions CSF3R D771fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 771 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). D771fs results in increased cell surface Csf3r expression, impaired receptor internalization, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 24403076, PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R D771fs

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Transcript NM_000760.4
gDNA chr1:g.(36466557_36466558)
cDNA c.(2311_2310)
Protein p.D771fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.(36466557_36466558) c.(2311_2310) p.D771fs RefSeq GRCh38/hg38
NM_000760.4 chr1:g.(36466557_36466558) c.(2311_2310) p.D771fs RefSeq GRCh38/hg38
NM_000760 chr1:g.(36466557_36466558) c.(2311_2310) p.D771fs RefSeq GRCh38/hg38

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  • 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