FYCO1
Chr 3ARFYVE and coiled-coil domain autophagy adaptor 1
Also known as: CATC2, CTRCT18, RUFY3, ZFYVE7
The protein is a Rab7 adapter that mediates microtubule plus end-directed transport of autophagosomes by interacting with Rab7, phosphatidylinositol-3-phosphate, LC3, and kinesin KIF5. Mutations cause autosomal recessive congenital cataracts, with inheritance following an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
437 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 | 25 | 1 | 4 | 0 | 30 |
Likely Pathogenic | 8 | 0 | 1 | 0 | 9 |
VUS | 1 | 234 | 7 | 1 | 243 |
Likely Benign | 1 | 21 | 18 | 25 | 65 |
Benign | 0 | 11 | 48 | 9 | 68 |
Conflicting | — | 4 | |||
| Total | 35 | 267 | 78 | 35 | 419 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FYCO1 · 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