FYCO1 Chromosome 3
FYVE and coiled-coil domain autophagy adaptor 1
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What This Gene Does
The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"Zinc fingers FYVE-type|GOLD domain containing"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000163820
Associated Conditions (4)
Cataract 18
FYCO1-related disorder
Inborn genetic diseases
Abnormality of the eye
Key Variants
RS140159323
Conflicting classifications of pathogenicity
Cataract 18, Cataract 18
Health Risk
RS140372149
Conflicting classifications of pathogenicity
Cataract 18, Cataract 18
Health Risk
RS140730556
Conflicting classifications of pathogenicity
Cataract 18, FYCO1-related disorder, Cataract 18
Health Risk
RS141476300
Conflicting classifications of pathogenicity
FYCO1-related disorder, FYCO1-related disorder
Health Risk
RS144182297
Conflicting classifications of pathogenicity
Cataract 18, FYCO1-related disorder, Inborn genetic diseases
Health Risk
RS144525738
Conflicting classifications of pathogenicity
Cataract 18, Cataract 18
Health Risk
RS146311777
Conflicting classifications of pathogenicity
Cataract 18, FYCO1-related disorder, Inborn genetic diseases
Health Risk
RS146592828
Conflicting classifications of pathogenicity
Cataract 18, FYCO1-related disorder, Cataract 18
Health Risk
RS146711260
Conflicting classifications of pathogenicity
Cataract 18, FYCO1-related disorder, Inborn genetic diseases
Health Risk
RS147216026
Conflicting classifications of pathogenicity
Cataract 18, FYCO1-related disorder, Cataract 18
Health Risk
RS149643762
Conflicting classifications of pathogenicity
Cataract 18, Cataract 18
Health Risk
RS149783680
Conflicting classifications of pathogenicity
Cataract 18, Cataract 18
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140159323 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS140372149 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS140730556 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Cataract 18 |
| RS141476300 | Health Risk | Conflicting classifications of pathogenicity | FYCO1-related disorder, FYCO1-related disorder |
| RS144182297 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Inborn genetic diseases |
| RS144525738 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS146311777 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Inborn genetic diseases |
| RS146592828 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Cataract 18 |
| RS146711260 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Inborn genetic diseases |
| RS147216026 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Cataract 18 |
| RS149643762 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS149783680 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS149818737 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Inborn genetic diseases |
| RS150959263 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS185127002 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS201372127 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Inborn genetic diseases, Cataract 18 |
| RS373400491 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS41289612 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Inborn genetic diseases, Cataract 18 |
| RS746250940 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, FYCO1-related disorder, Inborn genetic diseases |
| RS748985200 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS752606656 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS755502918 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS764470073 | Health Risk | Conflicting classifications of pathogenicity | Cataract 18, Cataract 18 |
| RS1706240480 | Health Risk | Likely pathogenic | Cataract 18, Cataract 18 |
| RS200557771 | Health Risk | Likely pathogenic | Cataract 18, Cataract 18 |
| RS2528977475 | Health Risk | Likely pathogenic | FYCO1-related disorder, FYCO1-related disorder |
| RS766522434 | Health Risk | Likely pathogenic | Cataract 18, Cataract 18 |
| RS774761672 | Health Risk | Likely pathogenic | Cataract 18, Cataract 18 |
| RS1240503246 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS1575369255 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS1575372587 | Health Risk | Pathogenic | — |
| RS200679450 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS2125843413 | Health Risk | Pathogenic | — |
| RS2125846016 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS2125859204 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS2125859216 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS2529040601 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS372348872 | Health Risk | Pathogenic | FYCO1-related disorder, FYCO1-related disorder |
| RS387906963 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS387906964 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS387906965 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS387906966 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS73830668 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS747093432 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS749045427 | Health Risk | Pathogenic | FYCO1-related disorder, Inborn genetic diseases, FYCO1-related disorder |
| RS768945306 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS775542878 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS777269054 | Health Risk | Pathogenic | Cataract 18, Cataract 18 |
| RS933498193 | Health Risk | Pathogenic | FYCO1-related disorder, FYCO1-related disorder |
| RS764164884 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the eye, Cataract 18, Abnormality of the eye |