FAAP20
Chr 1FA core complex associated protein 20
Also known as: C1orf86, FP7162
The protein is a component of the Fanconi anemia complex that recognizes ubiquitin modifications at DNA interstrand cross-links and recruits other repair factors to promote DNA repair and translesion synthesis. Mutations cause Fanconi anemia, a disorder characterized by bone marrow failure, developmental abnormalities, and cancer predisposition with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.751), reflecting its essential role in DNA repair.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
187 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 125 | 0 | 125 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 15 | 19 | 0 | 34 |
Likely Benign | 0 | 7 | 0 | 1 | 8 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 22 | 148 | 2 | 172 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAAP20 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools