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Gene CSF3R
Variant S413L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CSF3R S413L lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S413L has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R S413L

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Transcript NM_000760.4
gDNA chr1:g.36471480G>A
cDNA c.1238C>T
Protein p.S413L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540748.3 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36471480G>A c.1238C>T p.S413L RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36471480G>A c.1238C>T p.S413L 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