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Gene CSF3R
Variant T640N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R T640N lies within the transmembrane domain of the Csf3r protein (UniProt.org). T640N results in transformation of cells, increased Jak-Stat activation, and tumor growth in mouse models (PMID: 26475333).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R T640N

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Transcript NM_000760.4
gDNA chr1:g.36467597G>T
cDNA c.1919C>A
Protein p.T640N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_172313 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_000760 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_011540749 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_011540748 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_005270493 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_156039 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
XM_017000370 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467597G>T c.1919C>A p.T640N RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R T640N chronic neutrophilic leukemia predicted - sensitive Ruxolitinib Case Reports/Case Series Actionable In a Phase II trial, Jakafi (ruxolitinib) treatment resulted in an overall hematologic response rate of 35% (15/43, 4 complete and 11 partial responses) and a median overall survival of 18.8 months in patients with chronic neutrophilic leukemia (CNL) or atypical chronic myeloid leukemia harboring CSF3R mutations T618I (n=20), T640N (n=1), and T615A (n=1), including a complete response in a CNL patient harboring CSF3R T640N (PMID: 31880950; NCT02092324). 31880950
CSF3R T640N Advanced Solid Tumor sensitive Ruxolitinib Preclinical Actionable In a preclinical study, Jakafi (ruxolitinib) reduces colony formation of cells expressing CSF3R T640N in culture (PMID: 26475333). 26475333