NBEA

neurobeachin

Summary

This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]

Known Variants455 total

rsidPosition (GRCh37)AllelesClassClinVar
rs92426920713:35,516,797C/T—uncertain significance
rs116573449913:35,516,971A/G—uncertain significance
rs205907022813:35,516,973C/T—uncertain significance
rs74739932013:35,516,974C/A—uncertain significance
rs205907050213:35,516,977G/A—uncertain significance
rs250055187713:35,516,982G/T—uncertain significance
rs250055250113:35,516,995A/C—uncertain significance
rs250055261913:35,516,998C/T—uncertain significance
rs138768084013:35,517,004C/T—uncertain significance
rs37725509513:35,517,005C/G—likely benign
rs136300417613:35,517,030G/A—conflicting classifications of pathogenicity
rs76739335213:35,517,059T/G—likely benign
rs205907464813:35,517,072G/T—uncertain significance
rs140567580213:35,517,073G/A—uncertain significance
rs76523586713:35,517,075A/C—uncertain significance
rs75278910213:35,517,076G/C—uncertain significance
rs215247625813:35,517,079G/A—uncertain significance
rs250055597113:35,517,093A/C—likely benign
rs75665589813:35,517,098G/C—likely benign
rs126569812113:35,517,099G/A—uncertain significance
rs250055679513:35,517,111G/T—uncertain significance
rs18315335913:35,517,125C/T—likely benign
rs76047321113:35,517,129G/A—uncertain significance
rs250055783013:35,517,152G/C—likely benign
rs77863348813:35,517,197C/T—likely benign
rs11800302313:35,517,233G/T—likely benign
rs20156132513:35,517,239G/A—likely benign
rs76678282813:35,615,083A/T—uncertain significance
rs76007231113:35,615,115G/T—uncertain significance
rs250218414513:35,615,133T/A—uncertain significance
rs250218501313:35,615,186G/A—likely pathogenic
rs18095344513:35,615,198A/G—likely benign
rs121556815513:35,615,208C/T—pathogenic
rs215255791213:35,615,212A/G—uncertain significance
rs98391764813:35,615,221G/A—uncertain significance
rs250218706613:35,615,304A/G—likely pathogenic
rs206279411713:35,619,096A/G—uncertain significance
rs18560641713:35,619,099T/C—uncertain significance
rs250224245113:35,619,113G/A—uncertain significance
rs250224262113:35,619,126T/A—uncertain significance
rs250224313113:35,619,155A/T—uncertain significance
rs206279555413:35,619,160G/A—uncertain significance
rs129174891913:35,619,168G/A—uncertain significance
rs77694224913:35,619,173A/G—uncertain significance
rs76996320513:35,619,437C/G—uncertain significance
rs250224953313:35,619,463A/T—uncertain significance
rs53520056713:35,619,496C/T—likely benign
rs76231408013:35,619,516A/G—conflicting classifications of pathogenicity
rs142871146313:35,619,546T/C—likely benign
rs130227435413:35,622,703A/G—uncertain significance
rs36867600813:35,622,718A/G—conflicting classifications of pathogenicity
rs119098965013:35,624,410C/T—uncertain significance
rs215256340513:35,624,432A/G—uncertain significance
rs215256340913:35,624,440C/T—uncertain significance
rs215256342713:35,624,515G/T—likely pathogenic
rs250232010613:35,624,528G/A—uncertain significance
rs75199996113:35,630,171A/G—uncertain significance
rs127552064813:35,630,180C/T—pathogenic
rs77978004913:35,630,209T/G—pathogenic
rs215256615613:35,630,261A/G—uncertain significance
rs77560233913:35,630,266T/A—uncertain significance
rs121756698113:35,632,903G/A—uncertain significance
rs20084893513:35,632,946A/C—likely benign
rs250255737413:35,644,049C/A—uncertain significance
rs77360222813:35,644,194A/G—likely benign
rs250255921013:35,644,205C/A—pathogenic
rs215257394513:35,644,241A/C—uncertain significance
rs118113833713:35,644,869T/C—uncertain significance
rs250257005813:35,644,887A/G—uncertain significance
rs77691746313:35,644,946G/A—likely benign
rs74617468613:35,672,435G/A—uncertain significance
rs92430721213:35,672,477G/T—uncertain significance
rs250292928013:35,672,484T/C—uncertain significance
rs206544461113:35,672,513T/G—uncertain significance
rs250304146813:35,683,431C/T—uncertain significance
rs147260293913:35,683,457C/G—likely benign
rs142024672213:35,683,473C/A—uncertain significance
rs250304204713:35,683,481A/G—likely pathogenic
rs77487422313:35,683,493G/A—likely benign
rs250304230313:35,683,496T/A—uncertain significance
rs250304310813:35,683,554C/T—uncertain significance
rs75269972513:35,683,558C/A—likely benign
rs76763664513:35,683,578A/C—uncertain significance
rs130611123013:35,684,947G/A—uncertain significance
rs135191403013:35,684,948T/G—uncertain significance
rs74648780413:35,685,052T/A—uncertain significance
rs206617065513:35,685,059A/G—uncertain significance
rs215265925313:35,685,091A/G—uncertain significance
rs142170909013:35,685,103C/A—uncertain significance
rs206631993013:35,687,645C/T—uncertain significance
rs142221766213:35,691,554G/T—uncertain significance
rs100296112213:35,691,560G/A—uncertain significance
rs250313187913:35,691,575A/G—uncertain significance
rs131565640913:35,691,582A/G—uncertain significance
rs77960689413:35,691,591G/A—likely benign
rs250313232813:35,691,618G/T—uncertain significance
rs129662705013:35,692,368C/T—likely pathogenic
rs250314061913:35,692,380G/A—uncertain significance
rs206660774213:35,692,385T/A—uncertain significance
rs206661495113:35,692,514G/C—uncertain significance

Showing 100 of 455 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.