CDKN1B

cyclin dependent kinase inhibitor 1B

Summary

This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]

Known Variants565 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3575674112:12,868,701C/Tregulatory region variant—
rs3622849912:12,869,936C/Aregulatory region variantbenign
rs3622849812:12,869,972T/G—benign
rs88604907712:12,870,303T/G—uncertain significance
rs135714560112:12,870,351G/A—uncertain significance
rs54483556512:12,870,363T/C—benign
rs88604907812:12,870,388C/T—uncertain significance
rs91075164512:12,870,400G/A—uncertain significance
rs1155061512:12,870,403C/T—uncertain significance
rs88604907912:12,870,408C/T—uncertain significance
rs88604908012:12,870,438A/G—uncertain significance
rs309372812:12,870,508C/G—benign
rs56134448512:12,870,520C/G—benign
rs165313605712:12,870,548C/T—uncertain significance
rs97629763412:12,870,552C/T—uncertain significance
rs18371025312:12,870,572C/T—likely benign
rs54994300112:12,870,648C/T—benign
rs55123675012:12,870,694C/T—pathogenic
rs3433012:12,870,695T/Cregulatory region variantbenign
rs159228060512:12,870,701G/A—uncertain significance
rs78017228212:12,870,738G/C—uncertain significance
rs36826804412:12,870,750C/T—uncertain significance
rs100657879812:12,870,754C/T—likely benign
rs194648469812:12,870,757G/A—uncertain significance
rs37491382312:12,870,764C/T—conflicting classifications of pathogenicity
rs20216743412:12,870,765G/A—uncertain significance
rs75134121412:12,870,767G/C—uncertain significance
rs213635531312:12,870,769G/T—uncertain significance
rs99806099012:12,870,772A/G—uncertain significance
rs194648512612:12,870,774A/G—uncertain significance
rs194648522912:12,870,775T/C—uncertain significance
rs75619083612:12,870,776G/Amissense variantuncertain significance
rs213635532712:12,870,778C/T—uncertain significance
rs194648531812:12,870,779A/T—likely benign
rs134809053212:12,870,780A/G—uncertain significance
rs141162235112:12,870,782C/A—uncertain significance
rs78012463812:12,870,783G/T—uncertain significance
rs194648550112:12,870,784T/C—uncertain significance
rs155508547712:12,870,785G/A—likely benign
rs134966840912:12,870,786C/T—pathogenic
rs140816405012:12,870,787G/A—uncertain significance
rs213635535312:12,870,788A/G—likely benign
rs213635535612:12,870,789G/C—uncertain significance
rs194648564112:12,870,790T/C—uncertain significance
rs213635536312:12,870,791G/A—likely benign
rs36815753512:12,870,793C/G—uncertain significance
rs159228069712:12,870,794T/C—likely benign
rs194648576312:12,870,795A/T—uncertain significance
rs37130824612:12,870,797C/T—likely benign
rs75522528612:12,870,798G/A—conflicting classifications of pathogenicity
rs194648592612:12,870,799G/A—uncertain significance
rs106050386912:12,870,800G/A—conflicting classifications of pathogenicity
rs155508548212:12,870,802G/A—uncertain significance
rs99043318012:12,870,803C/G—uncertain significance
rs77919324012:12,870,804C/T—conflicting classifications of pathogenicity
rs74854350412:12,870,805C/T—uncertain significance
rs213635539912:12,870,806T/C—likely benign
rs159228071712:12,870,807A/G—uncertain significance
rs77577207412:12,870,808G/T—conflicting classifications of pathogenicity
rs77842535712:12,870,809C/A—uncertain significance
rs194648640412:12,870,810C/T—likely benign
rs194648644912:12,870,811T/G—uncertain significance
rs53434233112:12,870,812G/A—likely benign
rs249740377512:12,870,813G/A—uncertain significance
rs146754986612:12,870,814A/G—uncertain significance
rs74745677012:12,870,815G/A—likely benign
rs206682812:12,870,816C/T—uncertain significance
rs77505860612:12,870,818G/C—likely benign
rs116208117012:12,870,819A/G—uncertain significance
rs194648685212:12,870,821G/A—uncertain significance
rs55253383812:12,870,824C/A—conflicting classifications of pathogenicity
rs127742996912:12,870,826C/G—uncertain significance
rs15102746612:12,870,827C/T—conflicting classifications of pathogenicity
rs155508549612:12,870,828A/G—uncertain significance
rs194648717612:12,870,830G/A—likely benign
rs194648723012:12,870,831C/T—pathogenic
rs136971548512:12,870,833G/C—uncertain significance
rs142277475212:12,870,834G/A—uncertain significance
rs122951540812:12,870,835C/T—uncertain significance
rs142765007912:12,870,836G/T—likely benign
rs213635546112:12,870,837G/C—uncertain significance
rs194648754812:12,870,840C/T—conflicting classifications of pathogenicity
rs194648758112:12,870,841A/G—uncertain significance
rs194648761512:12,870,842C/A—uncertain significance
rs213635548012:12,870,843C/T—uncertain significance
rs249740391612:12,870,844C/T—uncertain significance
rs36761132812:12,870,848G/A—likely benign
rs213635548612:12,870,849C/T—uncertain significance
rs213635549112:12,870,850C/T—uncertain significance
rs194648778412:12,870,852T/C—uncertain significance
rs106050019012:12,870,853C/T—uncertain significance
rs136744698212:12,870,854G/A—likely benign
rs249740397012:12,870,855G/T—uncertain significance
rs159228077412:12,870,856C/T—uncertain significance
rs194648794812:12,870,859G/A—uncertain significance
rs76723469612:12,870,860C/T—likely benign
rs213635552112:12,870,863G/A—likely benign
rs249740400712:12,870,864A/T—uncertain significance
rs57755468512:12,870,866C/A—uncertain significance
rs213635553112:12,870,867C/T—uncertain significance

Showing 100 of 565 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.