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Gene | RAD51D |
Variant | K91Ifs*13 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51D K91Ifs*13 indicates a shift in the reading frame starting at amino acid 91 and terminating 13 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). K91Ifs*13 results in similar levels of migration compared to wild-type Rad51d but fails to inhibit cell proliferation and results in increased sensitivity to PARP inhibitors in Rad51d knock-out cells in culture (PMID: 38905575), and therefore, is predicted to lead to a loss of Rad51d protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D K91fs RAD51D K91Ifs*13 |
Transcript | NM_002878.4 |
gDNA | chr17:g.35107441_35107442dupAT |
cDNA | c.270_271dupTA |
Protein | p.K91Ifs*13 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.4 | chr17:g.35107441_35107442dupAT | c.270_271dupTA | p.K91Ifs*13 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RAD51D K91Ifs*13 | loss of function - predicted | Olaparib |