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Gene CSF3R
Variant S783Kfs*6
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R S783Kfs*6 indicates a shift in the reading frame starting at amino acid 783 and terminating 6 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S783Kfs*6 has not been characterized, but is predicted to lead to a gain of Csf3r protein function based on the effects of a similar frameshift mutation at S783 (PMID: 23656643).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R S783fs CSF3R S783Kfs*6

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Transcript NM_000760.4
gDNA chr1:g.36466521dupT
cDNA c.2347dupA
Protein p.S783Kfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466521dupT c.2347dupA p.S783Kfs*6 RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466521dupT c.2347dupA p.S783Kfs*6 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 S783Kfs*6 gain of function - predicted