VPS35 Chromosome 16
VPS35 retromer complex component
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What This Gene Does
This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
16q11.2
Ensembl
ENSG00000069329
Associated Conditions (2)
Parkinson disease 17
Inborn genetic diseases
Key Variants
RS142063738
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS183554824
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS192419029
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS193077277
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS370401767
Conflicting classifications of pathogenicity
Parkinson disease 17, Inborn genetic diseases, Parkinson disease 17
Health Risk
RS373075116
Conflicting classifications of pathogenicity
Parkinson disease 17, Inborn genetic diseases, Parkinson disease 17
Health Risk
RS542139125
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS563975281
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS747325352
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS747944333
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS763697798
Conflicting classifications of pathogenicity
Parkinson disease 17, Parkinson disease 17
Health Risk
RS797044948
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142063738 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS183554824 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS192419029 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS193077277 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS370401767 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Inborn genetic diseases, Parkinson disease 17 |
| RS373075116 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Inborn genetic diseases, Parkinson disease 17 |
| RS542139125 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS563975281 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS747325352 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS747944333 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS763697798 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease 17, Parkinson disease 17 |
| RS797044948 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS188286943 | Health Risk | Pathogenic | Parkinson disease 17, Parkinson disease 17 |