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POLR2C

Synonyms
RPB3, RPB31, hRPB33, hsRPB3
External resources
Summary
This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21.

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
29,983
Likely benign
855
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on POLR2C gene.

Phenotype class
Patients in 3billion (%)

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