rs371487179
This variant is located in the FZR1 gene.
▶ClinVar annotation
About FZR1
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Jul 2025]
View all FZR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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