Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CSF3R |
Variant | S715* |
Impact List | nonsense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CSF3R S715* results in a premature truncation of the Csf3r protein at amino acid 715 of 836 (UniProt.org). S715* has not been biochemically characterized, but is not transforming in cell culture (PMID: 28439110), and therefore, is predicted to have no effect on Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R S715* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466724G>T |
cDNA | c.2144C>A |
Protein | p.S715* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CSF3R mutant | bone marrow cancer | not applicable | N/A | Clinical Study | Emerging | In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). | 24081659 23656643 24441292 |