AICDA

activation induced cytidine deaminase

Summary

This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]

Known Variants207 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10489498112:8,754,946G/A—likely benign
rs194119940412:8,755,078A/G—uncertain significance
rs55700502612:8,755,176G/A—likely benign
rs7535137912:8,755,186T/C—benign
rs102636927412:8,755,196A/G—uncertain significance
rs11552354412:8,755,214C/A—benign
rs52767597312:8,755,218G/T—likely benign
rs18747355212:8,755,425C/T—uncertain significance
rs118885869812:8,755,427T/C—uncertain significance
rs128623347612:8,755,500T/C—uncertain significance
rs194120816712:8,755,567C/G—uncertain significance
rs14076546012:8,755,583C/T—benign
rs74840007812:8,755,584G/A—uncertain significance
rs88604986812:8,755,618G/A—uncertain significance
rs88752711412:8,755,654T/G—uncertain significance
rs75125927412:8,755,667T/C—uncertain significance
rs14776224512:8,755,674G/A—benign
rs19208895112:8,755,707G/A—uncertain significance
rs77319085512:8,755,741T/C—likely benign
rs713899012:8,755,742T/C—uncertain significance
rs86759434612:8,755,743T/C—uncertain significance
rs37102093812:8,755,744T/C—uncertain significance
rs88604986912:8,755,774T/C—uncertain significance
rs14146028012:8,755,791G/A—benign
rs88604987012:8,755,797A/G—uncertain significance
rs730472312:8,755,852G/A—benign
rs194121657612:8,755,855C/T—uncertain significance
rs101819214812:8,755,870G/A—uncertain significance
rs18439290212:8,755,922T/C—likely benign
rs88604987112:8,756,043T/C—uncertain significance
rs88604987212:8,756,076T/A—uncertain significance
rs118929210612:8,756,109A/T—uncertain significance
rs7437281512:8,756,162G/T—benign
rs88604987312:8,756,210T/A—uncertain significance
rs11285022912:8,756,255A/G—uncertain significance
rs320519012:8,756,324A/C—uncertain significance
rs88604987412:8,756,326A/G—uncertain significance
rs19032124012:8,756,410G/C—likely benign
rs10489498212:8,756,434C/T—uncertain significance
rs1230709712:8,756,571A/G—benign
rs88604987512:8,756,592G/A—uncertain significance
rs11261052312:8,756,645G/C—uncertain significance
rs1104634912:8,756,791T/G—benign
rs14909567812:8,756,813G/A—uncertain significance
rs11508908612:8,756,842A/C—uncertain significance
rs194123217112:8,756,882A/T—uncertain significance
rs7859006012:8,756,892A/G—benign
rs76835855612:8,756,901T/G—likely benign
rs213643055912:8,756,903C/T—uncertain significance
rs36940724312:8,756,904G/A—likely benign
rs254024994812:8,756,905T/A—uncertain significance
rs74768064412:8,756,908C/T—uncertain significance
rs76939983312:8,756,909G/A—pathogenic
rs254024996312:8,756,911A/C—uncertain significance
rs122724369412:8,756,920A/G—uncertain significance
rs194123672312:8,756,923T/G—uncertain significance
rs159174350512:8,756,925A/T—uncertain significance
rs213643059212:8,756,928C/A—likely benign
rs77238803412:8,756,935T/C—likely pathogenic
rs194123727612:8,756,936G/A—uncertain significance
rs194123732012:8,756,937T/C—likely benign
rs7887881712:8,757,293A/C—benign
rs117401230412:8,757,413C/G—uncertain significance
rs74880620712:8,757,429A/C—uncertain significance
rs37306199012:8,757,435G/A—uncertain significance
rs254025066212:8,757,450G/A—uncertain significance
rs213643106512:8,757,463G/A—likely benign
rs254025071012:8,757,476C/A—uncertain significance
rs77265135212:8,757,478T/C—likely benign
rs202837312:8,757,481A/G—uncertain significance
rs120695581912:8,757,489C/G—uncertain significance
rs126389714512:8,757,490T/C—likely benign
rs10489432712:8,757,494A/Gmissense variantpathogenic
rs10489432312:8,757,505G/Tstop gainedpathogenic
rs118583892012:8,757,518T/A—uncertain significance
rs76636103512:8,757,519C/A—likely pathogenic
rs7742960812:8,757,522C/A—likely benign
rs20139377212:8,757,536G/A—benign
rs76740898312:8,757,537G/A—likely benign
rs76384102712:8,757,792G/A—likely benign
rs37774339412:8,757,793C/T—likely benign
rs77827083512:8,757,800C/T—likely benign
rs20050510112:8,757,803T/C—likely benign
rs131869400612:8,757,805T/G—uncertain significance
rs20118047712:8,757,807G/A—conflicting classifications of pathogenicity
rs77352179312:8,757,810C/T—likely pathogenic
rs118511903512:8,757,811C/A—uncertain significance
rs254025130512:8,757,816A/T—uncertain significance
rs37568482312:8,757,820T/C—uncertain significance
rs159174421712:8,757,821C/A—likely pathogenic
rs20085879712:8,757,822A/G—pathogenic
rs10489432212:8,757,823T/Cmissense variantpathogenic
rs88700278612:8,757,830T/C—uncertain significance
rs213643159812:8,757,831A/G—uncertain significance
rs194126369712:8,757,832T/C—uncertain significance
rs10489498312:8,757,833T/C—likely benign
rs213643160812:8,757,835G/A—pathogenic
rs77553065812:8,757,836C/T—likely benign
rs144170400312:8,757,838C/T—uncertain significance
rs37065021612:8,757,839C/G—likely benign

Showing 100 of 207 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.