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CSF3R S783Qfs*6 - Gene Variant Detail

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Gene CSF3R
Variant S783Qfs*6
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R S783Qfs*6 indicates a shift in the reading frame starting at amino acid 783 and terminating 6 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S783Qfs*6 has not been characterized, but is predicted to lead to a gain of Csf3r protein function based on the effects of a similar frameshift mutation at S783 (PMID: 23656643).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R S783fs CSF3R S783Qfs*6

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Transcript NM_000760.4
gDNA chr1:g.36466526dupG
cDNA c.2346dupC
Protein p.S783Qfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466526dupG c.2346dupC p.S783Qfs*6 RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466526dupG c.2346dupC p.S783Qfs*6 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References