CSF3R E808K
Gene Variant Detail

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Gene CSF3R
Variant E808K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CSF3R E808K lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E808K (also referred to as E785K) results in decreased colony formation compared to wild-type Csf3r in cultured cells, however, does not alter activation of Erk2, Mapk, Jnk, or Stat5, or cell differentiation (PMID: 15644419), and is not transforming in cell culture (PMID: 26475333), and therefore, its effect on Csf3r protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R E808K

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Transcript NM_000760.4
gDNA chr1:g.36466446C>T
cDNA c.2422G>A
Protein p.E808K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466446C>T c.2422G>A p.E808K RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466446C>T c.2422G>A p.E808K RefSeq GRCh38/hg38
NM_000760 chr1:g.36466446C>T c.2422G>A p.E808K 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 Protein Effect Treatment Approaches
CSF3R E808K unknown