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POLR2L

Synonyms
RBP10, RPABC5, RPB10, RPB10beta, RPB7.6, hRPB7.6
External resources
Summary
This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases.

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
7,252
Likely benign
100
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on POLR2L gene.

Phenotype class
Patients in 3billion (%)

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