POLR2A

RNA polymerase II subunit A

Summary

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]

Known Variants263 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs144575559	17:7,387,730	C/A	regulatory region variant	—
rs751215469	17:7,388,139	A/G	—	uncertain significance
rs1468135846	17:7,388,143	A/C	—	uncertain significance
rs2508056813	17:7,388,149	G/T	—	uncertain significance
rs769761900	17:7,388,152	C/G	—	uncertain significance
rs1388837601	17:7,388,166	C/G	—	uncertain significance
rs2150872936	17:7,388,168	G/C	—	uncertain significance
rs2070399240	17:7,388,172	A/T	—	likely benign
rs117573122	17:7,388,716	G/C	regulatory region variant	—
rs116560331	17:7,391,685	G/A	upstream gene variant	—
rs56078345	17:7,394,341	T/C	intron variant	—
rs1380728982	17:7,399,303	C/T	—	uncertain significance
rs150809300	17:7,399,318	G/A	—	uncertain significance
rs41556717	17:7,399,319	T/C	—	benign
rs1567700702	17:7,399,330	G/C	—	uncertain significance
rs2508102247	17:7,399,336	T/C	—	uncertain significance
rs149517878	17:7,399,346	G/T	—	likely benign
rs2508102446	17:7,399,372	G/T	—	uncertain significance
rs868359721	17:7,399,591	G/T	—	uncertain significance
rs1567700828	17:7,399,614	G/T	—	uncertain significance
rs762784138	17:7,399,625	G/A	—	uncertain significance
rs766405787	17:7,399,637	T/G	—	likely benign
rs2150879653	17:7,399,776	G/C	—	uncertain significance
rs2508104663	17:7,399,778	A/C	—	uncertain significance
rs750625038	17:7,399,786	G/T	—	likely benign
rs1329988533	17:7,399,813	C/T	—	uncertain significance
rs2508104941	17:7,399,825	G/T	—	uncertain significance
rs7219725	17:7,399,830	C/T	—	likely benign
rs2301609	17:7,399,866	G/A	—	benign
rs2508105235	17:7,399,876	G/A	—	uncertain significance
rs368365915	17:7,399,887	C/T	—	likely benign
rs1466698706	17:7,399,888	G/A	—	uncertain significance
rs1597795004	17:7,399,899	A/C	—	uncertain significance
rs2508105431	17:7,399,912	G/C	—	uncertain significance
rs9890920	17:7,400,041	C/T	—	benign
rs572552203	17:7,400,120	G/T	—	uncertain significance
rs1376707591	17:7,400,173	C/T	—	conflicting classifications of pathogenicity
rs2508107360	17:7,400,186	T/A	—	uncertain significance
rs758175343	17:7,400,225	G/A	—	uncertain significance
rs2508107639	17:7,400,229	C/T	—	likely benign
rs1432483030	17:7,400,233	G/T	—	uncertain significance
rs148413593	17:7,400,251	C/G	—	likely pathogenic
rs780933644	17:7,400,266	C/T	—	uncertain significance
rs2508107996	17:7,400,275	C/T	—	uncertain significance
rs2070531732	17:7,400,287	A/T	—	likely pathogenic
rs887367647	17:7,400,323	G/A	—	likely pathogenic
rs377745426	17:7,400,353	G/A	—	conflicting classifications of pathogenicity
rs151123773	17:7,400,356	C/T	—	likely benign
rs375201795	17:7,400,357	G/A	—	uncertain significance
rs2508110454	17:7,400,687	C/T	—	uncertain significance
rs915680017	17:7,400,702	A/G	—	uncertain significance
rs140036552	17:7,400,704	C/T	—	benign
rs2150880304	17:7,400,814	A/G	—	uncertain significance
rs2228128	17:7,400,815	C/T	—	benign
rs200190387	17:7,400,835	G/A	—	uncertain significance
rs2508112259	17:7,400,984	G/A	—	uncertain significance
rs147691592	17:7,401,010	G/A	—	benign
rs2150880440	17:7,401,038	C/T	—	uncertain significance
rs2508112587	17:7,401,099	C/T	—	likely pathogenic
rs2070540765	17:7,401,101	A/G	—	uncertain significance
rs779189062	17:7,401,137	A/G	—	uncertain significance
rs1597795846	17:7,401,153	C/G	—	uncertain significance
rs200485876	17:7,401,159	C/G	—	uncertain significance
rs377580743	17:7,401,160	G/A	—	likely benign
rs762931028	17:7,401,181	C/T	—	likely benign
rs1206233486	17:7,401,182	A/G	—	uncertain significance
rs987372651	17:7,401,413	C/T	—	uncertain significance
rs769941878	17:7,401,439	C/T	—	likely benign
rs2150880695	17:7,401,482	C/A	—	uncertain significance
rs1597796823	17:7,402,392	T/C	—	pathogenic
rs1567702275	17:7,402,401	G/A	—	likely pathogenic
rs2277638	17:7,402,556	G/A	—	benign
rs2508122194	17:7,402,599	G/C	—	uncertain significance
rs2228129	17:7,402,600	C/T	—	benign
rs2070561031	17:7,402,601	G/A	—	pathogenic
rs141735058	17:7,402,612	G/A	—	likely benign
rs2070561729	17:7,402,707	G/A	—	uncertain significance
rs1314989898	17:7,402,796	G/A	—	uncertain significance
rs10048219	17:7,403,792	C/T	intron variant	—
rs12936464	17:7,403,942	A/C	—	benign
rs765136696	17:7,403,990	G/A	—	likely benign
rs147280623	17:7,403,993	G/A	—	likely benign
rs2150882373	17:7,404,118	A/T	—	uncertain significance
rs2150882409	17:7,404,166	A/C	—	uncertain significance
rs2150882412	17:7,404,170	A/G	—	uncertain significance
rs6503030	17:7,404,209	G/A	—	benign
rs577364570	17:7,404,287	T/C	—	likely benign
rs147933295	17:7,404,309	T/C	—	likely benign
rs2070581346	17:7,404,320	C/A	—	likely pathogenic
rs2508133184	17:7,404,333	G/A	—	uncertain significance
rs2508133328	17:7,404,359	G/A	—	uncertain significance
rs1217783122	17:7,404,361	C/T	—	uncertain significance
rs2150882545	17:7,404,398	C/G	—	uncertain significance
rs2508133654	17:7,404,425	A/C	—	uncertain significance
rs141797325	17:7,404,651	T/G	—	likely benign
rs1597798340	17:7,404,655	C/T	—	pathogenic
rs151071350	17:7,404,862	C/T	—	likely benign
rs2150882831	17:7,404,864	A/G	—	conflicting classifications of pathogenicity
rs1597798503	17:7,404,902	C/T	—	likely pathogenic
rs1597798507	17:7,404,906	C/T	—	pathogenic

Showing 100 of 263 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.