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Gene CSF3R
Variant K704A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R K704A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K704A results in increased cell surface Csf3r expression, impaired receptor ubiquitination and degradation, elevated Stat5 activation, and transformation in cell culture (PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R K704A

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Transcript NM_000760.4
gDNA chr1:g.36466757_36466758delAAinsGC
cDNA c.2110_2111delAAinsGC
Protein p.K704A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_172313.2 chr1:g.36466757_36466758delAAinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
XM_005270493 chr1:g.36466754_36466755delTTinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36466757_36466758delAAinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466757_36466758delAAinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
NM_172313 chr1:g.36466757_36466758delTTinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
NM_000760 chr1:g.36466757_36466758delTTinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466757_36466758delAAinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36466754_36466755delAAinsGC c.2110_2111delAAinsGC p.K704A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36466754_36466755delAAinsGC c.2110_2111delAAinsGC p.K704A 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries