CSNK2B
casein kinase 2 beta
Summary
This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3117579 | 6:31,633,496 | G/C | — | — |
| rs9267529 | 6:31,634,570 | A/C | — | benign |
| rs144133926 | 6:31,634,608 | G/C | — | likely benign |
| rs1801755635 | 6:31,634,609 | A/G | — | pathogenic |
| rs1562045237 | 6:31,634,610 | T/G | — | pathogenic |
| rs1801756577 | 6:31,634,614 | C/T | — | likely benign |
| rs2536947549 | 6:31,634,621 | G/T | — | pathogenic |
| rs2536947667 | 6:31,634,635 | G/A | — | pathogenic |
| rs2536947688 | 6:31,634,640 | C/T | — | uncertain significance |
| rs1554169462 | 6:31,634,644 | G/A | — | pathogenic |
| rs2536947987 | 6:31,634,675 | T/C | — | uncertain significance |
| rs1801760887 | 6:31,634,676 | G/T | — | uncertain significance |
| rs2151182211 | 6:31,634,678 | G/T | — | not provided |
| rs1801761541 | 6:31,634,681 | G/A | — | pathogenic |
| rs2151182244 | 6:31,634,682 | T/G | — | likely pathogenic |
| rs3132448 | 6:31,634,758 | G/A | — | benign |
| rs36048548 | 6:31,634,971 | C/G | — | — |
| rs1554169967 | 6:31,635,643 | A/G | — | pathogenic |
| rs2151185341 | 6:31,635,644 | G/A | — | pathogenic |
| rs2151185359 | 6:31,635,663 | C/T | — | pathogenic |
| rs1554169984 | 6:31,635,666 | G/A | — | pathogenic |
| rs2536957931 | 6:31,635,667 | A/C | — | pathogenic |
| rs1374628000 | 6:31,635,673 | T/G | — | likely pathogenic |
| rs2151185393 | 6:31,635,679 | T/C | — | pathogenic |
| rs139131793 | 6:31,635,680 | T/A | — | benign |
| rs2151185431 | 6:31,635,688 | T/G | — | likely pathogenic |
| rs1339457069 | 6:31,635,696 | C/T | — | pathogenic |
| rs1085307703 | 6:31,635,711 | C/T | — | pathogenic |
| rs2151185508 | 6:31,635,718 | C/A | — | uncertain significance |
| rs2536958403 | 6:31,635,748 | G/A | — | pathogenic |
| rs1583605716 | 6:31,635,749 | T/G | — | pathogenic |
| rs1562050885 | 6:31,636,321 | G/T | — | likely pathogenic |
| rs2151187172 | 6:31,636,342 | C/T | — | likely pathogenic |
| rs2536962697 | 6:31,636,343 | A/T | — | uncertain significance |
| rs1583608433 | 6:31,636,369 | G/T | — | likely pathogenic |
| rs2151187226 | 6:31,636,376 | T/C | — | uncertain significance |
| rs1554170318 | 6:31,636,378 | T/A | — | uncertain significance |
| rs1801960712 | 6:31,636,385 | T/A | — | pathogenic |
| rs761163913 | 6:31,636,392 | C/T | — | likely benign |
| rs1801961640 | 6:31,636,396 | C/T | — | pathogenic |
| rs372125807 | 6:31,636,397 | G/C | — | likely pathogenic |
| rs2536963048 | 6:31,636,417 | G/A | — | uncertain significance |
| rs2536963059 | 6:31,636,418 | G/T | — | uncertain significance |
| rs2536963135 | 6:31,636,426 | C/T | — | pathogenic |
| rs2536963142 | 6:31,636,429 | A/G | — | uncertain significance |
| rs2151187334 | 6:31,636,431 | G/A | — | likely pathogenic |
| rs2151187350 | 6:31,636,432 | G/T | — | likely pathogenic |
| rs2536963193 | 6:31,636,436 | G/C | — | likely pathogenic |
| rs9267531 | 6:31,636,742 | A/G | — | benign |
| rs1802000298 | 6:31,636,872 | A/C | — | pathogenic |
| rs571224228 | 6:31,636,874 | T/C | — | likely benign |
| rs1802000840 | 6:31,636,885 | C/G | — | likely pathogenic |
| rs1802001080 | 6:31,636,886 | C/T | — | pathogenic |
| rs2536966052 | 6:31,636,889 | C/T | — | pathogenic |
| rs2536966071 | 6:31,636,892 | G/T | — | pathogenic |
| rs1583610423 | 6:31,636,900 | T/G | — | uncertain significance |
| rs2536966124 | 6:31,636,907 | T/C | — | conflicting classifications of pathogenicity |
| rs2151188333 | 6:31,636,914 | G/C | — | pathogenic |
| rs1802003420 | 6:31,636,922 | T/C | — | uncertain significance |
| rs2151188371 | 6:31,636,931 | C/T | — | pathogenic |
| rs2536966348 | 6:31,636,947 | T/C | — | uncertain significance |
| rs2151188416 | 6:31,636,950 | G/A | — | pathogenic |
| rs1583610610 | 6:31,636,951 | T/C | — | pathogenic |
| rs2151188436 | 6:31,636,955 | T/C | — | uncertain significance |
| rs1583611290 | 6:31,637,094 | A/G | — | pathogenic |
| rs2536967534 | 6:31,637,096 | G/A | — | pathogenic |
| rs2151188756 | 6:31,637,102 | C/G | — | pathogenic |
| rs2536967665 | 6:31,637,136 | C/G | — | pathogenic |
| rs2151188789 | 6:31,637,138 | G/A | — | pathogenic |
| rs1562052640 | 6:31,637,150 | T/C | — | uncertain significance |
| rs2536967921 | 6:31,637,174 | C/G | — | pathogenic |
| rs143237802 | 6:31,637,190 | G/T | — | likely benign |
| rs2536968051 | 6:31,637,191 | G/C | — | uncertain significance |
| rs2151188873 | 6:31,637,195 | G/A | — | conflicting classifications of pathogenicity |
| rs2151188903 | 6:31,637,202 | C/G | — | pathogenic |
| rs2536968107 | 6:31,637,203 | T/G | — | uncertain significance |
| rs2151188947 | 6:31,637,219 | C/G | — | conflicting classifications of pathogenicity |
| rs1802026476 | 6:31,637,222 | A/G | — | pathogenic |
| rs1169432962 | 6:31,637,229 | C/T | — | uncertain significance |
| rs2536968227 | 6:31,637,233 | A/G | — | uncertain significance |
| rs2151189059 | 6:31,637,285 | G/T | — | uncertain significance |
| rs2151189070 | 6:31,637,286 | G/A | — | pathogenic |
| rs2536970792 | 6:31,637,602 | C/T | — | uncertain significance |
| rs1802055133 | 6:31,637,615 | T/C | — | pathogenic |
| rs2151189797 | 6:31,637,620 | G/A | — | uncertain significance |
| rs1802055915 | 6:31,637,621 | G/T | — | likely pathogenic |
| rs2536970927 | 6:31,637,624 | T/C | — | conflicting classifications of pathogenicity |
| rs1246917499 | 6:31,637,636 | C/T | — | uncertain significance |
| rs547417484 | 6:31,637,637 | G/A | — | likely benign |
| rs2151189915 | 6:31,637,686 | G/A | — | uncertain significance |
| rs144120994 | 6:31,637,694 | G/A | — | likely benign |
| rs5872 | 6:31,637,734 | A/T | — | benign |
| rs4569 | 6:31,637,807 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.