FANCA
Chr 16ARFA complementation group A
Also known as: FA, FA-H, FA1, FAA, FACA, FAH, FANCH
The FANCA protein functions in DNA repair, specifically in interstrand DNA cross-link repair and maintenance of chromosome stability as part of the Fanconi anemia nuclear protein complex. Mutations cause Fanconi anemia complementation group A, an autosomal recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. FANCA mutations are the most common cause of Fanconi anemia among all complementation groups.
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
FANCA · 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
A Phase 1/1B Study of ST-01156, a Small Molecule RBM39 Degrader, in Patients With Advanced Solid Malignancies
RECRUITINGPrevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGMolecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study
ENROLLING BY INVITATIONHaploidentical Hematopoietic Cell Transplantation Using TCR Alpha/Beta and CD19 Depletion
ACTIVE NOT RECRUITINGLong-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy
ACTIVE NOT RECRUITINGInvestigation of the Genetics of Hematologic Diseases
RECRUITINGGene Therapy for Fanconi Anemia, Complementation Group A
ACTIVE NOT RECRUITINGOlaparib In Metastatic Breast Cancer
ACTIVE NOT RECRUITINGFamilial Investigations of Childhood Cancer Predisposition
RECRUITINGLentiviral-mediated Gene Therapy for Pediatric Patients With Fanconi Anemia Subtype A
ACTIVE NOT RECRUITINGSerial Circulating Tumor DNA (ctDNA) Monitoring During Adjuvant Capecitabine in Early Triple-negative Breast Cancer
RECRUITINGAbiraterone/Prednisone, Olaparib, or Abiraterone/Prednisone + Olaparib in Patients With Metastatic Castration-Resistant Prostate Cancer With DNA Repair Defects
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools