rs2085974749

This variant is located in the EMC3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About EMC3

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]

View all EMC3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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