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| Gene | CSF1R |
| Variant | Y969* |
| Impact List | nonsense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CSF1R Y969* results in a premature truncation of the Csf1r protein at amino acid 969 of 972 (UniProt.org). Y969* has been identified in the scientific literature (PMID: 37860756), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Jul 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
CSF1R mutant CSF1R Y969* |
| Transcript | NM_001288705.3 |
| gDNA | chr5:g.150054081A>T |
| cDNA | c.2907T>A |
| Protein | p.Y969* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001349736.1 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_001349736.2 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_001288705.2 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_005211.4 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_005211.3 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_001288705.3 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_001288705 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_005211 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| NM_001375320.1 | chr5:g.150054081A>T | c.2907T>A | p.Y969* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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