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Gene FANCL
Variant R221W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCL R221W lies within the UBC-RWD region of the Fancl protein (UniProt.org). R221W results in decreased Fancl protein thermal stability, Fancd2 binding and ubiquitination in in vitro assays, and reduced ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600).
Associated Drug Resistance
Category Variants Paths

FANCL mutant FANCL inact mut FANCL R221W

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Transcript NM_018062.4
gDNA chr2:g.58165754G>A
cDNA c.661C>T
Protein p.R221W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264395.4 chr2:g.58165754G>A c.661C>T p.R221W RefSeq GRCh38/hg38
NM_018062.4 chr2:g.58165754G>A c.661C>T p.R221W RefSeq GRCh38/hg38
NM_018062.3 chr2:g.58165754G>A c.661C>T p.R221W RefSeq GRCh38/hg38
XM_005264395.5 chr2:g.58165754G>A c.661C>T p.R221W RefSeq GRCh38/hg38
NM_018062 chr2:g.58165754G>A c.661C>T p.R221W RefSeq GRCh38/hg38
XM_005264395 chr2:g.58165754G>A c.661C>T p.R221W RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • 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
FANCL inact mut prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment significantly improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer who progressed on hormone therapy and harbored deleterious or suspected deleterious mutations in homologous recombination repair genes, including FANCL (PMID: 32343890; NCT02987543). detail... detail... 32343890
FANCL 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 FANCL (NCCN.org). detail...