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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,672
Likely benign
314
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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