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Gene | CSF3R |
Variant | T640I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CSF3R T640I lies within the transmembrane domain of the Csf3r protein (UniProt.org). T640I results in cytokine-induced proliferation similar to wild-type protein (PMID: 33108454) and is not transforming in cell culture (PMID: 29572350), and therefore, is predicted to have no effect on Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R T640I |
Transcript | NM_000760.4 |
gDNA | chr1:g.36467597G>A |
cDNA | c.1919C>T |
Protein | p.T640I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011540749.1 | chr1:g.36467597G>A | c.1919C>T | p.T640I | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36467597G>A | c.1919C>T | p.T640I | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36467597G>A | c.1919C>T | p.T640I | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36467597G>A | c.1919C>T | p.T640I | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36467597G>A | c.1919C>T | p.T640I | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36467597G>A | c.1919C>T | p.T640I | 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 |