HIP1R Chromosome 12

Huntingtin interacting protein 1 related
1 variant 1 Health Risk

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What This Gene Does
Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2025]
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS371380314 Health Risk Conflicting classifications of pathogenicity
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