rs369004034
This variant is located in the DERL3 gene.
▶ClinVar annotation
About DERL3
The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
View all DERL3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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