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Gene CSF3R
Variant P784T
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R P784T lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P784T results in delayed internalization of Csf3r, leading to increased cell surface Csf3r localization, phosphorylation of Stat3 and Stat5, and proliferation in response to cytokine in culture (PMID: 33108454).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R P784T

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Transcript NM_000760.4
gDNA chr1:g.36466518G>T
cDNA c.2350C>A
Protein p.P784T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.4 chr1:g.36466518G>T c.2350C>A p.P784T 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")

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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