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Gene CSF3R
Variant E700*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions CSF3R E700* results in a premature truncation of the Csf3r protein at amino acid 700 of 836 (UniProt.org). L700* results in increased Csf3r cell surface expression and impaired receptor internalization, however, leads to reduced Stat5 activation and G-CSF sensitivity compared to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, its effect on Csf3r protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R E700*

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Transcript NM_000760.4
gDNA chr1:g.36466770C>A
cDNA c.2098G>T
Protein p.E700*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005270493.1 chr1:g.36466767C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466770C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
NM_000760 chr1:g.36466770C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36466767C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466770C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
NM_172313 chr1:g.36466770C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36466770C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
XM_005270493 chr1:g.36466767C>A c.2098G>T p.E700* RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36466770C>A c.2098G>T p.E700* 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

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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