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 | T690M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R T690M lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T690M has been identified in sequencing studies (PMID: 27070704), 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 T690M |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466799G>A |
cDNA | c.2069C>T |
Protein | p.T690M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760 | chr1:g.36466799G>A | c.2069C>T | p.T690M | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466799G>A | c.2069C>T | p.T690M | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466799G>A | c.2069C>T | p.T690M | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36466799G>A | c.2069C>T | p.T690M | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36466799G>A | c.2069C>T | p.T690M | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36466799G>A | c.2069C>T | p.T690M | 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 |