rs1057519322
This is a stop gained variant in the NCLN gene.
▶ClinVar annotation
About NCLN
Enables ribosome binding activity. Involved in several processes, including multi-pass transmembrane protein insertion into ER membrane; protein stabilization; and regulation of protein complex stability. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex. [provided by Alliance of Genome Resources, Jul 2025]
View all NCLN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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