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Gene CSF3R
Variant K704A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R K704A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K704A results in increased cell surface Csf3r expression, impaired receptor ubiquitination and degradation, elevated Stat5 activation, and transformation in cell culture (PMID: 28439110).
Associated Drug Resistance

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Transcript NM_000760
gDNA chr1:g.36466757_36466758delTTinsGC
cDNA c.2110_2111delAAinsGC
Protein p.K704A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_172313 chr1:g.36466757_36466758delTTinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
XM_005270493 chr1:g.36466754_36466755delTTinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
NM_000760 chr1:g.36466757_36466758delTTinsGC c.2110_2111delAAinsGC p.K704A 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
  • 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
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 K704A gain of function JAK Inhibitor (Pan) - ATP competitive