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