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| Gene | CSF1R |
| Variant | Y969F |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | CSF1R Y969F lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969F has not been biochemically characterized, but results in increased transforming ability compared to wild-type Csf1r protein in cell culture (PMID: 18971950) and therefore, is predicted to lead to a gain of Csf1r protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
CSF1R mutant CSF1R act mut CSF1R Y969F |
| Transcript | NM_001288705.3 |
| gDNA | chr5:g.150054082T>A |
| cDNA | c.2906A>T |
| Protein | p.Y969F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001349736.1 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_005211 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_005211.4 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_005211.3 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_001288705 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_001288705.2 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_001288705.3 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_001349736.2 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| NM_001375320.1 | chr5:g.150054082T>A | c.2906A>T | p.Y969F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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