PACS1 Chromosome 11

Phosphofurin acidic cluster sorting protein 1
56 variants 56 Health Risk

Upload your DNA to see your personal genotypes for variants in PACS1.

What This Gene Does
This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
Schuurs-Hoeijmakers syndrome
PACS1-related disorder
Inborn genetic diseases
Intellectual disability
PACS1-related syndrome
Global developmental delay
Neurodevelopmental disorder
See cases
Key Variants
RS115491121
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, PACS1-related disorder, Schuurs-Hoeijmakers syndrome
Health Risk
RS115813669
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
RS1175983246
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1176211628
Conflicting classifications of pathogenicity
Health Risk
RS1285923468
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS140167187
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1406197729
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1422464917
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
RS148237222
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1565150720
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
RS1590844551
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS184092629
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
All Variants (56)
RSID Category Clinical Significance Conditions
RS115491121 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, PACS1-related disorder, Schuurs-Hoeijmakers syndrome
RS115813669 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS1175983246 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS1176211628 Health Risk Conflicting classifications of pathogenicity —
RS1285923468 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS140167187 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS1406197729 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS1422464917 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS148237222 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS1565150720 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS1590844551 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS184092629 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS1855762744 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS1855812873 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS200950761 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS201700614 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS201877943 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS2134698831 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS2134748638 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS369233658 Health Risk Conflicting classifications of pathogenicity PACS1-related disorder, PACS1-related disorder
RS369846760 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS371400214 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS371513573 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS372582742 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS373127343 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS375682747 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS377164490 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS562418648 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS578033982 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS61736585 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, PACS1-related disorder
RS745638170 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS748523504 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS749515977 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS751491596 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS751638632 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS756287691 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS757141627 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS760985201 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS763294619 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PACS1-related disorder, Inborn genetic diseases
RS764689853 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS765325642 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Intellectual disability, PACS1-related disorder
RS766187894 Health Risk Conflicting classifications of pathogenicity —
RS767885129 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, PACS1-related disorder, Schuurs-Hoeijmakers syndrome
RS769140907 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS775980710 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS778277597 Health Risk Conflicting classifications of pathogenicity PACS1-related disorder, Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS778653156 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS780310274 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS780723803 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS781666830 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
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