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Gene | RAD51C |
Variant | G162Efs*9 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C G162Efs*9 indicates a shift in the reading frame starting at amino acid 162 and terminating nine residues downstream causing a premature truncation of the 376 amino acid Rad51c protein (UniProt.org). G162Efs*9 has not been characterized however, due to the effects of other truncation mutations downstream of G162 (PMID: 28588062), is predicted to lead to a loss of Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C G162Efs*9 |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696773delG |
cDNA | c.485delG |
Protein | p.G162Efs*9 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216.3 | chr17:g.58696773delG | c.485delG | p.G162Efs*9 | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58696773delG | c.485delG | p.G162Efs*9 | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58696773delG | c.485delG | p.G162Efs*9 | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58696773delG | c.485delG | p.G162Efs*9 | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58696773delG | c.485delG | p.G162Efs*9 | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58696773delG | c.485delG | p.G162Efs*9 | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58696773delG | c.485delG | p.G162Efs*9 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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