rs11537609
This variant is located in the NSF gene.
▶ClinVar annotation
Likely Benign★★★☆
3 submitters2 publicationsAbout NSF
Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy 96. [provided by Alliance of Genome Resources, Jul 2025]
View all NSF variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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