rs905075104

This variant is located in the AP2A2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About AP2A2

The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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