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Gene CSF3R
Variant A124V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CSF3R A124V lies within the extracellular domain of the Csf3r protein (UniProt.org). A124V 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 A124V

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Transcript NM_000760.4
gDNA chr1:g.36473878G>A
cDNA c.371C>T
Protein p.A124V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005270493 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_011540749 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_000760 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_156039 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_172313 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_011540748 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_017000370 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36473878G>A c.371C>T p.A124V RefSeq GRCh38/hg38

Filtering

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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")

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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