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Gene CSF3R
Variant S783fs
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R S783fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 783 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). S783fs does not result in increased Stat3 activation (PMID: 23656643, PMID: 24403076), however, results in increased Src activation and transformation in cell culture (PMID: 23656643), and therefore, is predicted to lead to a gain of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R S783fs

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Transcript NM_000760.4
gDNA chr1:g.(36466521_36466522)
cDNA c.(2347_2346)
Protein p.S783fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.4 chr1:g.(36466521_36466522) c.(2347_2346) p.S783fs RefSeq GRCh38/hg38
NM_000760 chr1:g.(36466521_36466522) c.(2347_2346) p.S783fs RefSeq GRCh38/hg38
NM_000760.3 chr1:g.(36466521_36466522) c.(2347_2346) p.S783fs 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 Protein Effect Treatment Approaches
CSF3R S783fs gain of function - predicted