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Gene CSF3R
Variant D771fs
Impact List frameshift
Protein Effect gain of function
Gene Variant Descriptions CSF3R D771fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 771 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). D771fs results in increased cell surface Csf3r expression, impaired receptor internalization, hypersensitivity to G-CSF stimulation, elevated Stat5 activation, and is transforming in cell culture (PMID: 24403076, PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R D771fs

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Transcript NM_000760.4
gDNA chr1:g.(36466557_36466558)
cDNA c.(2311_2310)
Protein p.D771fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.(36466557_36466558) c.(2311_2310) p.D771fs RefSeq GRCh38/hg38
NM_000760.4 chr1:g.(36466557_36466558) c.(2311_2310) p.D771fs RefSeq GRCh38/hg38
NM_000760 chr1:g.(36466557_36466558) c.(2311_2310) p.D771fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
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  • 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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Molecular Profile Protein Effect Treatment Approaches
CSF3R D771fs gain of function JAK Inhibitor (Pan) - ATP competitive