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Gene CSF3R
Variant S581C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R S581C lies within 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_000760.4
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
NM_172313.3 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
XM_011540749.1 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
XM_047446753.1 chr1:g.36467944G>C c.1742C>G p.S581C RefSeq GRCh38/hg38
NM_000760.4 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_156039.3 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
XM_017000370.1 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
NM_000760.3 chr1:g.36467944G>C c.1742C>G p.S581C 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
CSF3R S581C gain of function JAK Inhibitor (Pan) - ATP competitive