FANCL
Chr 2ARFA complementation group L
Also known as: FAAP43, PHF9, POG
This protein functions as a ubiquitin ligase that mediates monoubiquitination of FANCD2 and FANCI, which are key steps in the DNA damage repair pathway. Mutations cause Fanconi anemia complementation group L, a disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FANCL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGSerial Circulating Tumor DNA (ctDNA) Monitoring During Adjuvant Capecitabine in Early Triple-negative Breast Cancer
RECRUITINGStudy of Olaparib in Metastatic Renal Cell Carcinoma Patients With DNA Repair Gene Mutations
RECRUITINGA Study of PARG Inhibitor IDE161 in Participants With Advanced Solid Tumors
RECRUITINGNiraparib Before Surgery in Treating Patients With High Risk Localized Prostate Cancer and DNA Damage Response Defects
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools