VAC14 Chromosome 16
VAC14 component of PIKFYVE complex
Upload your DNA to see your personal genotypes for variants in VAC14.
What This Gene Does
This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
16q22.1-q22.2
Ensembl
ENSG00000103043
Associated Conditions (4)
Striatonigral degeneration
childhood-onset
Inborn genetic diseases
Yunis-Varon syndrome
Key Variants
RS1363536856
Conflicting classifications of pathogenicity
Striatonigral degeneration, childhood-onset, Inborn genetic diseases
Health Risk
RS145938865
Conflicting classifications of pathogenicity
Striatonigral degeneration, childhood-onset, Inborn genetic diseases
Health Risk
RS190751684
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749094914
Conflicting classifications of pathogenicity
Striatonigral degeneration, childhood-onset, Striatonigral degeneration
Health Risk
RS750777960
Conflicting classifications of pathogenicity
Health Risk
RS778169043
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS78503253
Conflicting classifications of pathogenicity
Health Risk
RS1015359196
Likely pathogenic
Striatonigral degeneration, childhood-onset, Striatonigral degeneration
Health Risk
RS1060499667
Likely pathogenic
Yunis-Varon syndrome, Yunis-Varon syndrome
Health Risk
RS1555527284
Likely pathogenic
Health Risk
RS2033913406
Likely pathogenic
Health Risk
RS2507738804
Likely pathogenic
Striatonigral degeneration, childhood-onset, Striatonigral degeneration
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1363536856 | Health Risk | Conflicting classifications of pathogenicity | Striatonigral degeneration, childhood-onset, Inborn genetic diseases |
| RS145938865 | Health Risk | Conflicting classifications of pathogenicity | Striatonigral degeneration, childhood-onset, Inborn genetic diseases |
| RS190751684 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749094914 | Health Risk | Conflicting classifications of pathogenicity | Striatonigral degeneration, childhood-onset, Striatonigral degeneration |
| RS750777960 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778169043 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS78503253 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1015359196 | Health Risk | Likely pathogenic | Striatonigral degeneration, childhood-onset, Striatonigral degeneration |
| RS1060499667 | Health Risk | Likely pathogenic | Yunis-Varon syndrome, Yunis-Varon syndrome |
| RS1555527284 | Health Risk | Likely pathogenic | — |
| RS2033913406 | Health Risk | Likely pathogenic | — |
| RS2507738804 | Health Risk | Likely pathogenic | Striatonigral degeneration, childhood-onset, Striatonigral degeneration |
| RS2507435768 | Health Risk | Pathogenic | — |
| RS2507815078 | Health Risk | Pathogenic | — |
| RS762388639 | Health Risk | Pathogenic | Striatonigral degeneration, childhood-onset, Striatonigral degeneration |
| RS769608639 | Health Risk | Pathogenic | Yunis-Varon syndrome, Striatonigral degeneration, childhood-onset |
| RS879255555 | Health Risk | Pathogenic | Striatonigral degeneration, childhood-onset, Striatonigral degeneration |
| RS879255645 | Health Risk | Pathogenic | Striatonigral degeneration, childhood-onset, Striatonigral degeneration |