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Gene CSF3R
Variant F813*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions CSF3R F813* results in a premature truncation of the Csf3r protein at amino acid 813 of 836 (UniProt.org). F813* has been identified in the sequencing studies (PMID: 34975010), 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 F813*

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Transcript NM_000760.4
gDNA chr1:g.36466429_36466430delTTinsAA
cDNA c.2438_2439delTTinsAA
Protein p.F813*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466429_36466430delTTinsAA c.2438_2439delTTinsAA p.F813* RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466429_36466430delTTinsAA c.2438_2439delTTinsAA p.F813* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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