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Gene CSF3R
Variant L670*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CSF3R L670* results in a premature truncation of the Csf3r protein at amino acid 670 of 836 (UniProt.org). L670* results in increased Csf3r cell surface expression and impaired receptor internalization, however, does not demonstrate a response to G-CSF stimulation compared to wild-type in cultured cells (PMID: 28439110), and therefore, is predicted to lead to a loss of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R inact mut CSF3R L670*

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Transcript NM_000760.4
gDNA chr1:g.36467261_36467262delCTinsTA
cDNA c.2008_2009delCTinsTA
Protein p.L670*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_156039 chr1:g.36467261_36467262delAGinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
XM_011540748 chr1:g.36467261_36467262delAGinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_172313 chr1:g.36467261_36467262delAGinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
XM_017000370 chr1:g.36467261_36467262delAGinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467261_36467262delCTinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38
NM_000760 chr1:g.36467261_36467262delAGinsTA c.2008_2009delCTinsTA p.L670* RefSeq GRCh38/hg38

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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