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Gene | CSF3R |
Variant | P782Hfs*8 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R P782Hfs*8 indicates a shift in the reading frame starting at amino acid 782 and terminating 8 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). P782Hfs*8 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R P782Hfs*8 |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466523_36466524insTTGT |
cDNA | c.2344_2345insACAA |
Protein | p.P782Hfs*8 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.3 | chr1:g.36466523_36466524insTTGT | c.2344_2345insACAA | p.P782Hfs*8 | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466523_36466524insTTGT | c.2344_2345insACAA | p.P782Hfs*8 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CSF3R P782Hfs*8 | unknown |