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Gene | CSF3R |
Variant | S786Lfs*2 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R S786Lfs*2 indicates a shift in the reading frame starting at amino acid 786 and terminating 2 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S786Lfs*2 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 S786Lfs*2 |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466510_36466511delGG |
cDNA | c.2357_2358delCC |
Protein | p.S786Lfs*2 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.3 | chr1:g.36466510_36466511delGG | c.2357_2358delCC | p.S786Lfs*2 | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466510_36466511delGG | c.2357_2358delCC | p.S786Lfs*2 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CSF3R S786Lfs*2 | unknown |