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Gene CSF3R
Variant E524K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R E524K lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524K does not result in increased Stat5 and Erk activity, but confers a gain of function to the Csf3r protein as indicated by increased receptor internalization, Stat3 activation, and transformation in cultured cells (PMID: 29572350).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R E524K

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Transcript NM_000760.4
gDNA chr1:g.36469162C>T
cDNA c.1570G>A
Protein p.E524K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.4 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_011540749 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_011540748 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_172313 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_000760 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_017000370 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_005270493 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_156039 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469162C>T c.1570G>A p.E524K RefSeq GRCh38/hg38

Filtering

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  • 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 Protein Effect Treatment Approaches
CSF3R E524K gain of function JAK Inhibitor (Pan) - ATP competitive