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Gene CSF3R
Variant Q793*
Impact List nonsense
Protein Effect gain of function
Gene Variant Descriptions CSF3R Q793* results in a premature truncation of the Csf3r protein at amino acid 793 of 836 (UniProt.org). Q793* results in increased cell surface Csf3r expression, impaired receptor degradation, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R Q793*

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Transcript NM_000760.4
gDNA chr1:g.36466491G>A
cDNA c.2377C>T
Protein p.Q793*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.4 chr1:g.36466491G>A c.2377C>T p.Q793* RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466491G>A c.2377C>T p.Q793* RefSeq GRCh38/hg38
NM_000760 chr1:g.36466491G>A c.2377C>T p.Q793* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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