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XPO6

Synonyms
EXP6, RANBP20
External resources
Summary
The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
5,629
Likely benign
347
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on XPO6 gene.

Phenotype class
Patients in 3billion (%)

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