rs781090413

This variant is located in the RANBP17 gene.

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ClinVar annotation

Uncertain Significance

1 submitter

RANBP17-related disorder

About RANBP17

The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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