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Gene | CSF3R |
Variant | Q739* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R Q739* results in a premature truncation of the Csf3r protein at amino acid 739 of 836 (UniProt.org). Q739* has been identified in the scientific literature (PMID: 25865944, PMID: 29932212, PMID: 36579444), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R Q739* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466653G>A |
cDNA | c.2215C>T |
Protein | p.Q739* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_172313.2 | chr1:g.36466653G>A | c.2215C>T | p.Q739* | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36466653G>A | c.2215C>T | p.Q739* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466653G>A | c.2215C>T | p.Q739* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466653G>A | c.2215C>T | p.Q739* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CSF3R N579Y CSF3R Q739* CSF3R Q741* | chronic neutrophilic leukemia | predicted - sensitive | Ruxolitinib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Jakafi (ruxolitinib) treatment inhibited colony formation of hematopoietic progenitor cells isolated from the bone marrow of a patient with chronic neutrophilic leukemia harboring CSF3R N579Y, Q739*, and Q741* in culture (PMID: 36579444). | 36579444 |