rs2508112587

This variant is located in the POLR2A gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

About POLR2A

This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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