POLR1B
RNA polymerase I subunit B
Summary
Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs565643303 | 2:113,298,360 | G/T | — | — |
| rs769542609 | 2:113,299,993 | G/A | — | likely benign |
| rs1682811417 | 2:113,300,127 | T/C | — | uncertain significance |
| rs1682817325 | 2:113,300,219 | G/A | — | uncertain significance |
| rs2241804 | 2:113,300,283 | C/G | — | benign |
| rs4849071 | 2:113,300,330 | G/A | — | benign |
| rs4849072 | 2:113,300,394 | A/C | — | benign |
| rs3860388 | 2:113,303,155 | C/A | — | — |
| rs560435122 | 2:113,304,626 | G/T | — | uncertain significance |
| rs1345529172 | 2:113,304,691 | A/C | — | uncertain significance |
| rs747673959 | 2:113,304,712 | G/A | — | uncertain significance |
| rs1396054466 | 2:113,305,083 | A/C | — | uncertain significance |
| rs1224955841 | 2:113,305,110 | C/A | — | uncertain significance |
| rs2467555675 | 2:113,305,142 | G/T | — | likely pathogenic |
| rs11123139 | 2:113,305,150 | G/C | — | benign |
| rs78234807 | 2:113,305,152 | C/T | — | benign |
| rs60300136 | 2:113,305,358 | G/A | — | benign |
| rs62158585 | 2:113,306,827 | A/G | — | benign |
| rs761935743 | 2:113,306,929 | T/C | — | uncertain significance |
| rs550652481 | 2:113,307,081 | T/C | — | benign |
| rs11675730 | 2:113,307,115 | T/C | — | benign |
| rs149363725 | 2:113,308,418 | A/T | — | benign |
| rs749884133 | 2:113,308,451 | A/G | — | uncertain significance |
| rs2304555 | 2:113,308,516 | T/A | — | benign |
| rs764500712 | 2:113,308,521 | T/C | — | uncertain significance |
| rs3816140 | 2:113,308,622 | C/T | — | benign |
| rs7568539 | 2:113,308,795 | C/G | — | benign |
| rs201695032 | 2:113,309,359 | T/C | — | uncertain significance |
| rs1683380627 | 2:113,309,361 | A/G | — | uncertain significance |
| rs1245000940 | 2:113,309,378 | G/C | — | uncertain significance |
| rs781651612 | 2:113,309,450 | G/T | — | uncertain significance |
| rs773925234 | 2:113,309,458 | T/C | — | uncertain significance |
| rs201484468 | 2:113,309,467 | G/T | — | uncertain significance |
| rs1545133 | 2:113,309,473 | T/C | — | benign |
| rs7597698 | 2:113,309,620 | G/A | — | benign |
| rs13015822 | 2:113,309,653 | C/A | — | benign |
| rs928650369 | 2:113,310,245 | A/T | — | uncertain significance |
| rs372536940 | 2:113,310,284 | C/T | — | uncertain significance |
| rs9808491 | 2:113,310,543 | A/G | — | benign |
| rs41278940 | 2:113,315,300 | C/T | — | benign |
| rs1361356775 | 2:113,315,559 | A/G | — | uncertain significance |
| rs569151613 | 2:113,315,581 | G/A | — | likely benign |
| rs13413001 | 2:113,315,803 | A/C | — | benign |
| rs200625903 | 2:113,316,953 | G/C | — | uncertain significance |
| rs1683841121 | 2:113,316,968 | G/A | — | uncertain significance |
| rs764799865 | 2:113,316,982 | G/A | — | uncertain significance |
| rs532394488 | 2:113,317,017 | C/T | — | uncertain significance |
| rs2467610115 | 2:113,317,035 | C/T | — | uncertain significance |
| rs749384903 | 2:113,317,088 | G/A | — | likely benign |
| rs775748600 | 2:113,317,110 | T/G | — | uncertain significance |
| rs1206170617 | 2:113,317,122 | C/T | — | uncertain significance |
| rs200197405 | 2:113,317,142 | T/G | — | uncertain significance |
| rs3789723 | 2:113,317,353 | G/A | — | benign |
| rs41280572 | 2:113,321,900 | T/C | — | benign |
| rs113605612 | 2:113,321,911 | G/A | — | benign |
| rs6719657 | 2:113,321,944 | G/C | — | benign |
| rs144266676 | 2:113,321,966 | C/T | — | likely benign |
| rs1684175217 | 2:113,322,031 | T/A | — | uncertain significance |
| rs762997723 | 2:113,322,036 | A/C | — | uncertain significance |
| rs72946395 | 2:113,322,280 | A/G | — | benign |
| rs34051897 | 2:113,325,679 | T/C | — | benign |
| rs1684398590 | 2:113,325,680 | T/C | — | uncertain significance |
| rs749457076 | 2:113,325,688 | G/A | — | uncertain significance |
| rs6746874 | 2:113,326,281 | C/G | — | benign |
| rs1476199084 | 2:113,326,381 | A/G | — | uncertain significance |
| rs1211259578 | 2:113,326,386 | C/T | — | uncertain significance |
| rs2467655081 | 2:113,326,422 | T/A | — | uncertain significance |
| rs1684443250 | 2:113,326,451 | T/A | — | pathogenic |
| rs2467655297 | 2:113,326,460 | C/A | — | uncertain significance |
| rs13010814 | 2:113,326,502 | C/T | — | benign |
| rs3980078 | 2:113,328,043 | A/C | — | — |
| rs773499918 | 2:113,330,228 | G/C | — | uncertain significance |
| rs2467678361 | 2:113,331,232 | G/T | — | uncertain significance |
| rs200576643 | 2:113,331,271 | C/T | — | uncertain significance |
| rs779282177 | 2:113,331,274 | G/A | — | likely benign |
| rs2467679564 | 2:113,331,391 | A/G | — | uncertain significance |
| rs56081241 | 2:113,332,241 | G/C | — | benign |
| rs62158643 | 2:113,332,271 | C/G | — | benign |
| rs10169344 | 2:113,332,421 | T/C | — | benign |
| rs761844504 | 2:113,332,438 | G/A | — | uncertain significance |
| rs201077809 | 2:113,332,446 | G/T | — | uncertain significance |
| rs1684790547 | 2:113,332,448 | T/A | — | uncertain significance |
| rs143337808 | 2:113,332,498 | T/C | — | benign |
| rs1312867090 | 2:113,332,507 | C/T | — | uncertain significance |
| rs190250022 | 2:113,332,509 | A/G | — | uncertain significance |
| rs146532372 | 2:113,332,586 | G/A | — | benign |
| rs2467686695 | 2:113,332,778 | A/T | — | uncertain significance |
| rs772487422 | 2:113,332,791 | A/G | — | uncertain significance |
| rs746590764 | 2:113,332,801 | C/G | — | uncertain significance |
| rs1684813071 | 2:113,332,905 | C/T | — | pathogenic |
| rs1684814393 | 2:113,332,950 | C/T | — | uncertain significance |
| rs764551865 | 2:113,332,957 | G/C | — | uncertain significance |
| rs186060938 | 2:113,333,089 | G/A | — | likely benign |
| rs200995508 | 2:113,333,172 | C/T | — | uncertain significance |
| rs143416674 | 2:113,333,296 | A/G | — | uncertain significance |
| rs10205187 | 2:113,333,410 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.