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Gene | CSF3R |
Variant | S715* |
Impact List | nonsense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CSF3R S715* results in a premature truncation of the Csf3r protein at amino acid 715 of 836 (UniProt.org). S715* has not been biochemically characterized, but is not transforming in cell culture (PMID: 28439110), and therefore, is predicted to have no effect on Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R S715* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466724G>T |
cDNA | c.2144C>A |
Protein | p.S715* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_172313 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36466724G>T | c.2144C>A | p.S715* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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