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POLR2D

Synonyms
HSRBP4, HSRPB4, RBP4, RPB16, RPB4
External resources
Summary
This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from 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
2,805
Likely benign
443
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on POLR2D gene.

Phenotype class
Patients in 3billion (%)

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