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PAAF1

Synonyms
PAAF, Rpn14, WDR71
External resources
Summary
This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
3,350
Likely benign
1,600
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PAAF1 gene.

Phenotype class
Patients in 3billion (%)

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