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Gene CSF3R
Variant T738*
Impact List nonsense
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R T738* results in a premature truncation of the Csf3r protein at amino acid 738 of 836 (UniProt.org). T738* results in increased colony formation and Stat5 activation in response to G-CSF in culture (PMID: 28439110), and therefore, is predicted to lead to a gain of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R T738*

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Transcript NM_000760.4
gDNA chr1:g.36466654_36466656delACCinsTAA
cDNA c.2212_2214delACCinsTAA
Protein p.T738*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466654_36466656delACCinsTAA c.2212_2214delACCinsTAA p.T738* RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36466654_36466656delACCinsTAA c.2212_2214delACCinsTAA p.T738* RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466654_36466656delACCinsTAA c.2212_2214delACCinsTAA p.T738* RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36466654_36466656delACCinsTAA c.2212_2214delACCinsTAA p.T738* RefSeq GRCh38/hg38
NM_172313 chr1:g.36466654_36466656delGGTinsTTA c.2212_2214delACCinsTAA p.T738* RefSeq GRCh38/hg38
NM_000760 chr1:g.36466654_36466656delGGTinsTTA c.2212_2214delACCinsTAA p.T738* RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries