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| Gene | CSF3R |
| Variant | T615A |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | CSF3R T615A lies within fibronectin type-III domain 5 of the Csf3r protein (PMID: 23656643). T615A confers a gain of function to the Csf3r protein as demonstrated by increased Stat3 phosphorylation and decreased O-linked glycosylation in cultured cells (PMID: 24403076) and transformation in cultured cells (PMID: 23656643, PMID: 24403076). |
| Associated Drug Resistance | |
| Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R T615A |
| Transcript | NM_000760.4 |
| gDNA | chr1:g.36467843T>C |
| cDNA | c.1843A>G |
| Protein | p.T615A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017000370 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_172313.2 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_017000370.1 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_156039.3 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_172313.3 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_011540749 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_005270493 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_047446753.1 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_005270493.1 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_000760.3 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_156039.3 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_156039 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_005270493.1 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_172313 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_011540748 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_000760.4 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| NM_000760 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_011540748.3 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_011540749.1 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| XM_011540749.1 | chr1:g.36467843T>C | c.1843A>G | p.T615A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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