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Gene CSF3R
Variant E700Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CSF3R E700Q lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E700Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R E700Q

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Transcript NM_000760.4
gDNA chr1:g.36466770C>G
cDNA c.2098G>C
Protein p.E700Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005270493.1 chr1:g.36466767C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36466770C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
XM_005270493 chr1:g.36466767C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36466770C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36466767C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
NM_172313 chr1:g.36466770C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466770C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466770C>G c.2098G>C p.E700Q RefSeq GRCh38/hg38
NM_000760 chr1:g.36466770C>G c.2098G>C p.E700Q 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.
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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