ANKK1

ankyrin repeat and kinase domain containing 1

Pharmacogene

Summary

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

Known Variants92 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3565770811:113,258,616G/T—likely benign
rs105165628911:113,258,629T/G—uncertain significance
rs20100840611:113,258,719A/T—uncertain significance
rs36848332411:113,258,733C/G—uncertain significance
rs75289358811:113,258,779C/G—uncertain significance
rs18188351711:113,258,787G/A—likely benign
rs36877423311:113,264,226A/G—uncertain significance
rs20118516511:113,264,244A/G—uncertain significance
rs37089340111:113,264,327G/A—uncertain significance
rs74531915611:113,264,387A/G—uncertain significance
rs57430030411:113,264,463G/A—uncertain significance
rs5822413911:113,264,467C/T—benign
rs254880846111:113,264,468A/G—uncertain significance
rs1121459611:113,264,511C/T——
rs75407225711:113,265,661T/G—uncertain significance
rs76226197711:113,265,715C/T—uncertain significance
rs14080365811:113,265,716G/A—benign
rs75900932311:113,265,720C/G—uncertain significance
rs11580021711:113,265,724G/A—benign
rs254880907711:113,265,739A/G—uncertain significance
rs254880914711:113,265,780G/A—uncertain significance
rs77016421911:113,265,792G/T—uncertain significance
rs13984123811:113,266,080G/T—benign
rs254880938111:113,266,088A/G—uncertain significance
rs54737455211:113,266,089T/C—uncertain significance
rs36762914311:113,266,140C/T—likely benign
rs75427286411:113,266,789G/A—uncertain significance
rs37701869511:113,266,799G/A—uncertain significance
rs711890011:113,266,821A/G—benign
rs78093618711:113,266,872G/A—uncertain significance
rs254881010711:113,266,918A/G—uncertain significance
rs76083401111:113,266,921C/G—uncertain significance
rs254881013711:113,266,932C/G—uncertain significance
rs3548860111:113,266,933C/T—benign
rs1089154711:113,267,218C/Aintron variant—
rs13860817111:113,267,947C/A—likely benign
rs254881097511:113,268,009G/A—uncertain significance
rs11493118611:113,268,050C/T—benign
rs1160467111:113,268,059G/Tmissense variantbenign
rs11497645211:113,269,679C/G—benign
rs55697949911:113,269,707G/A—uncertain significance
rs76055560611:113,269,718C/T—uncertain significance
rs13927008911:113,269,724G/A—likely benign
rs20125776211:113,269,727C/T—likely benign
rs130956597111:113,269,809G/T—uncertain significance
rs1711545711:113,269,852C/T—benign
rs56143866311:113,269,866C/A—uncertain significance
rs37331174711:113,269,879C/T—likely benign
rs254881233711:113,269,931C/T—uncertain significance
rs76752461811:113,269,942T/A—uncertain significance
rs76456866111:113,269,957C/G—uncertain significance
rs74768279911:113,269,975C/T—likely benign
rs254881242311:113,270,011T/A—uncertain significance
rs493801611:113,270,015G/Amissense variantbenign
rs5600582111:113,270,041C/T—likely benign
rs75219105111:113,270,066C/T—uncertain significance
rs75566413711:113,270,067G/A—likely benign
rs147555266611:113,270,073G/A—uncertain significance
rs54592500911:113,270,139G/A—uncertain significance
rs159126527911:113,270,149C/A—uncertain significance
rs273484911:113,270,160A/Gmissense variantbenign
rs195067527111:113,270,235G/T—uncertain significance
rs53083571011:113,270,239G/T—uncertain significance
rs19957008111:113,270,260G/C—uncertain significance
rs75134479511:113,270,343C/A—uncertain significance
rs20009907311:113,270,344G/A—likely benign
rs11470004911:113,270,368C/T—benign
rs273484811:113,270,374C/Astop gained—
rs53591322711:113,270,391C/T—uncertain significance
rs74931541611:113,270,432A/G—uncertain significance
rs76152885111:113,270,441G/A—uncertain significance
rs11300550911:113,270,450G/T—benign
rs26760269811:113,270,472G/T—uncertain significance
rs710497911:113,270,478C/T—likely benign
rs37619515511:113,270,500G/T—uncertain significance
rs76952997111:113,270,556T/C—likely benign
rs15062767911:113,270,595G/A—uncertain significance
rs13919533911:113,270,610C/T—likely benign
rs5584950411:113,270,649A/G—uncertain significance
rs143119441511:113,270,722C/T—likely benign
rs254881332011:113,270,734T/G—uncertain significance
rs7707746311:113,270,749C/T—benign
rs14648087911:113,270,777G/A—likely benign
rs180049711:113,270,828G/Amissense variantbenign
rs101370206911:113,270,838C/T—uncertain significance
rs195069116711:113,270,854G/T—uncertain significance
rs37498028811:113,270,864A/G—likely benign
rs37659963111:113,270,898G/A—likely benign
rs77547779711:113,270,937C/T—likely benign
rs77692530011:113,270,945G/A—uncertain significance
rs120172243611:113,270,975G/A—uncertain significance
rs100138669711:113,270,990A/G—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.