CSF3R T618I
Gene Variant Detail

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Gene CSF3R
Variant T618I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R T618I lies within the extracellular domain proximal to the transmembrane domain of the Csf3r protein (PMID: 23656643). T618I confers a gain of function to the Csf3r protein as demonstrated by increased proliferation (PMID: 23656643), increased colony formation (PMID: 31784538), increased downstream Jak-Stat signaling in transformed cells in culture (PMID: 23656643), and led to the development of leukemia in a mouse model (PMID: 31784538).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R T618I

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Transcript NM_000760.4
gDNA chr1:g.36467833G>A
cDNA c.1853C>T
Protein p.T618I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_172313.2 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_005270493 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_000760 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540748 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_172313 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_011540749 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_156039 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_017000370 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36467833G>A c.1853C>T p.T618I RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467833G>A c.1853C>T p.T618I 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

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries