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| Gene | RAD51D |
| Variant | E157* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51D E157* results in a premature truncation of the Rad51d protein at amino acid 157 of 328 (UniProt.org). E157* has not been characterized however, due to the effects of other truncation mutations downstream of E157 (PMID: 33151324), is predicted to lead to a loss of Rad51d protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D E157* |
| Transcript | NM_002878.4 |
| gDNA | chr17:g.35106999C>A |
| cDNA | c.469G>T |
| Protein | p.E157* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002878.4 | chr17:g.35106999C>A | c.469G>T | p.E157* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| RAD51D E157* | loss of function - predicted | Olaparib |