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Gene Symbol CSF3R
Synonyms CD114 | GCSFR | SCN7
Gene Description CSF3R, colony stimulating factor 3 receptor, encodes a cytokine receptor regulating proliferation and differentiation of myeloid progenitor cells (PMID: 27789332). CSF3R mutations commonly occur in chronic neutrophilic leukemia and acute myeloid leukemia (PMID: 23896413, PMID: 30348809).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function CSF3R act mut indicates that this variant results in a gain of function in the Csf3r protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function CSF3R inact mut indicates that this variant results in a loss of function of the Csf3r protein. However, the specific amino acid change has not been identified.
mutant unknown unknown CSF3R mutant indicates an unspecified mutation in the CSF3R gene.
D771fs frameshift gain of function 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).
S783fs frameshift gain of function - predicted 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.