rs750127963

This variant is located in the MIA3 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

Inborn genetic diseases

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About MIA3

Enables cargo receptor activity. Involved in several processes, including COPII-coated vesicle cargo loading; cell migration involved in sprouting angiogenesis; and regulation of leukocyte migration. Located in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all MIA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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