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Gene CSF3R
Variant Q823*
Impact List nonsense
Protein Effect gain of function
Gene Variant Descriptions CSF3R Q823* results in a premature truncation of the Csf3r protein at amino acid 823 of 836 (UniProt.org). E823* results in impaired Csf3r receptor degradation, hypersensitivity to G-CSF stimulation, increased Stat5 phosphorylation, and is transforming in cell culture (PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R Q823*

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Transcript NM_000760.4
gDNA chr1:g.36466401G>A
cDNA c.2467C>T
Protein p.Q823*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466401G>A c.2467C>T p.Q823* RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466401G>A c.2467C>T p.Q823* RefSeq GRCh38/hg38
NM_000760 chr1:g.36466401G>A c.2467C>T p.Q823* RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References