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PSMD14

Synonyms
PAD1, POH1, RPN11
External resources
Summary
This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2.

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
1,850
Likely benign
344
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PSMD14 gene.

Phenotype class
Patients in 3billion (%)

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