rs558917051

This variant is located in the NSFL1C gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About NSFL1C

N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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