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Gene CSF3R
Variant E831*
Impact List nonsense
Protein Effect no effect
Gene Variant Descriptions CSF3R E831* results in a premature truncation of the Csf3r protein at amino acid 831 of 836 (UniProt.org). E831* results in cell surface Csf3r expression, Stat5 activation, and receptor degradation similar to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function.
Associated Drug Resistance

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Transcript NM_000760
gDNA chr1:g.36466377C>A
cDNA c.2491G>T
Protein p.E831*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760 chr1:g.36466377C>A c.2491G>T p.E831* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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
Molecular Profile Protein Effect Treatment Approaches
CSF3R E831* no effect