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Gene | RAD51D |
Variant | L215Tfs*112 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51D L215Tfs*112 indicates a shift in the reading frame starting at amino acid 215 and terminating 112 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). L215Tfs*112 has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D L215Tfs*112 |
Transcript | NM_002878.4 |
gDNA | chr17:g.35103479dupT |
cDNA | c.642dupA |
Protein | p.L215Tfs*112 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.3 | chr17:g.35103479dupT | c.642dupA | p.L215Tfs*112 | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35103479dupT | c.642dupA | p.L215Tfs*112 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51D mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |
RAD51D mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51D mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |