Gene Variant Detail

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Gene CSF3R
Variant S581C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R S581C lies within the fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581C confers a gain of function to the Csf3r protein as demonstrated by increased receptor dimerization and is transforming in cell culture (PMID: 29572350).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R S581C

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Transcript NM_000760.3
gDNA chr1:g.36467944G>C
cDNA c.1742C>G
Protein p.S581C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017000370.1 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References