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Gene | RSPO3 |
Variant | G215Efs*69 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | RSPO3 G215Efs*69 indicates a shift in the reading frame starting at amino acid 215 and terminating 69 residues downstream causing a premature truncation of the 272 amino acid Rspo3 protein (UniProt.org). G215Efs*69 has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Sep 2020). |
Associated Drug Resistance |
Transcript | NM_032784.4 |
gDNA | chr6:g.127195832delG |
cDNA | c.644delG |
Protein | p.G215Efs*69 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_032784.4 | chr6:g.127195832delG | c.644delG | p.G215Efs*69 | RefSeq | GRCh38/hg38 |
NM_032784 | chr6:g.127195830delA | c.642delA | p.G215Efs*69 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RSPO3 G215Efs*69 | unknown |