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Gene CSF3R
Variant L816A
Impact List missense
Protein Effect no effect
Gene Variant Descriptions CSF3R L816A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L816A results in cell surface Csf3r expression similar to wild-type and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R L816A

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Transcript NM_000760.4
gDNA chr1:g.36466421_36466422delCTinsGC
cDNA c.2446_2447delCTinsGC
Protein p.L816A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005270493.1 chr1:g.36466418_36466419delCTinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36466499_36466500delCTinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
NM_000760 chr1:g.36466421_36466422delAGinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
XM_011540749 chr1:g.36466499_36466500delAGinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466421_36466422delCTinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36466418_36466419delCTinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36466499_36466500delCTinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
XM_005270493 chr1:g.36466418_36466419delAGinsGC c.2446_2447delCTinsGC p.L816A RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466421_36466422delCTinsGC c.2446_2447delCTinsGC p.L816A 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 )
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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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References