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Gene RAD54L
Variant S49E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD54L S49E does not lie within any known functional domains of the Rad54l protein (UniProt.org). S49E confers a loss of function to the Rad54l protein as demonstrated by loss of Rad54l oligomerization and impaired DNA binding and branch migration in cell culture and in vitro assays (PMID: 29295984, PMID: 32337843).
Associated Drug Resistance
Category Variants Paths

RAD54L mutant RAD54L inact mut RAD54L S49E

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Transcript NM_001142548.2
gDNA chr1:g.46250054_46250056delTCTinsGAG
cDNA c.145_147delTCTinsGAG
Protein p.S49E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001142548.2 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_001142548.1 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_003579 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_001142548 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_003579.3 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38
NM_003579.4 chr1:g.46250054_46250056delTCTinsGAG c.145_147delTCTinsGAG p.S49E RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD54L inact mut prostate cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in RAD54L (NCCN.org). detail...
RAD54L inact mut prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in metastatic castration-resistant prostate cancer patients harboring deleterious or suspected deleterious mutations in homologous recombination repair genes who progressed on hormone therapy, HR for progression or death was 0.33 in RAD54L-mutant patients (PMID: 32343890; NCT02987543). detail... detail... 32343890