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Gene | CSF3R |
Variant | E831* |
Impact List | nonsense |
Protein Effect | no effect |
Gene Variant Descriptions | CSF3R E831* results in a premature truncation of the Csf3r protein at amino acid 831 of 836 (UniProt.org). E831* results in cell surface Csf3r expression, Stat5 activation, and receptor degradation 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 E831* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466377C>A |
cDNA | c.2491G>T |
Protein | p.E831* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760 | chr1:g.36466377C>A | c.2491G>T | p.E831* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466377C>A | c.2491G>T | p.E831* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466377C>A | c.2491G>T | p.E831* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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