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Gene CSF3R
Variant E254K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CSF3R E254K lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). E254K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R E254K

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Transcript NM_000760.4
gDNA chr1:g.36472600C>T
cDNA c.760G>A
Protein p.E254K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540748 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_017000370 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_011540749 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_172313 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_000760 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_156039 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_005270493 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36472600C>T c.760G>A p.E254K RefSeq GRCh38/hg38

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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