FAN1
Chr 15ARFANCD2 and FANCI associated nuclease 1
Also known as: KIAA1018, KMIN, MTMR15, hFAN1
The protein functions as a nuclease that repairs DNA interstrand cross-links through 5' flap endonuclease and 5'-3' exonuclease activity, specifically resolving homologous recombination intermediates at sites of DNA damage. Mutations cause karyomegalic interstitial nephritis, a kidney disease characterized by enlarged nuclei in renal tubular cells, inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants (LOEUF 1.117), reflecting its recessive inheritance pattern.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
561 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 | 16 | 1 | 72 | 0 | 89 |
Likely Pathogenic | 33 | 1 | 0 | 0 | 34 |
VUS | 1 | 241 | 43 | 4 | 289 |
Likely Benign | 0 | 6 | 27 | 45 | 78 |
Benign | 1 | 1 | 41 | 2 | 45 |
Conflicting | — | 9 | |||
| Total | 51 | 250 | 183 | 51 | 544 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAN1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools