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Gene CSF3R
Variant N579Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R N579Y lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N579Y confers a gain of function to Csf3r as demonstrated by cytokine-independent growth and increased Erk1/2 and Stat3 phosphorylation in cultured cells (PMID: 36579444).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R N579Y

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Transcript NM_000760.4
gDNA chr1:g.36467951T>A
cDNA c.1735A>T
Protein p.N579Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540748.3 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467951T>A c.1735A>T p.N579Y RefSeq GRCh38/hg38

Filtering

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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 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