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Gene CSF3R
Variant S772A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R S772A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S772A results in increased cell surface Csf3r expression, impaired receptor internalization, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R S772A

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Transcript NM_000760.4
gDNA chr1:g.36466554A>C
cDNA c.2314T>G
Protein p.S772A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760 chr1:g.36466554A>C c.2314T>G p.S772A RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466554A>C c.2314T>G p.S772A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466554A>C c.2314T>G p.S772A 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References