PAX2

paired box 2

Summary

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Known Variants359 total

rsidPosition (GRCh37)AllelesClassClinVar
rs128751755610:102,495,478G/A—uncertain significance
rs92262864010:102,495,496A/T—likely benign
rs491948610:102,495,521A/G—benign
rs658439510:102,498,008G/T——
rs450969310:102,501,571C/Tupstream gene variant—
rs434146710:102,505,147A/T—benign
rs56774098010:102,505,339A/G—likely benign
rs452363110:102,505,359C/A—benign
rs1224916410:102,505,462C/T—likely benign
rs1224927310:102,505,463G/T—likely benign
rs14369686010:102,505,604T/C—likely benign
rs709497710:102,505,643C/A—benign
rs1119068010:102,505,815A/G—benign
rs14812535210:102,505,858G/T—benign
rs6172983010:102,505,924C/T—likely benign
rs18958439110:102,505,981G/T—likely benign
rs184516690110:102,506,014C/T—likely benign
rs76715040810:102,506,018A/G—uncertain significance
rs75496873610:102,506,025T/A—uncertain significance
rs213382357110:102,506,043C/G—uncertain significance
rs14828817310:102,506,053G/C—likely benign
rs184516959910:102,506,061G/A—pathogenic
rs77351897610:102,506,063G/A—uncertain significance
rs87885300010:102,506,065G/T—pathogenic
rs74736445010:102,506,069C/A—likely benign
rs447286710:102,506,070G/A—likely benign
rs76248154010:102,506,072C/G—likely benign
rs76346416510:102,506,073G/T—benign
rs36940072610:102,506,080T/C—likely benign
rs440524110:102,506,103C/A—benign
rs117105878210:102,506,994G/C—uncertain significance
rs791226810:102,507,466T/Cintron variant—
rs18351833510:102,509,223C/T—likely benign
rs5726426210:102,509,275A/C—benign
rs11628027810:102,509,287C/A—likely benign
rs1119068110:102,509,323T/C—benign
rs11666444010:102,509,455G/C—likely benign
rs37743967110:102,509,495C/G—likely benign
rs56045443310:102,509,501A/G—likely pathogenic
rs213383348710:102,509,507G/A—likely benign
rs75277333010:102,509,513G/T—likely benign
rs249289248810:102,509,518T/G—uncertain significance
rs213383357210:102,509,528C/T—likely benign
rs184536619810:102,509,529G/C—likely pathogenic
rs20123991910:102,509,530G/T—likely pathogenic
rs213383361710:102,509,531G/A—likely benign
rs249289267110:102,509,533G/T—uncertain significance
rs37104167810:102,509,534G/T—likely benign
rs102250951010:102,509,535G/T—uncertain significance
rs249289280010:102,509,548G/A—uncertain significance
rs249289281910:102,509,551G/C—likely pathogenic
rs75763329510:102,509,555C/G—likely benign
rs20138123410:102,509,561C/T—likely benign
rs96820075010:102,509,562G/A—uncertain significance
rs156470622610:102,509,572G/A—likely pathogenic
rs184536832510:102,509,573G/A—likely benign
rs249289304810:102,509,574C/T—likely pathogenic
rs14157682410:102,509,576G/T—uncertain significance
rs213383379310:102,509,577C/T—uncertain significance
rs74763951610:102,509,579C/T—likely benign
rs77165499310:102,509,582C/T—likely benign
rs249289320710:102,509,584T/C—uncertain significance
rs77300936410:102,509,588G/A—likely benign
rs77662934610:102,509,603T/C—likely benign
rs75935693610:102,509,607C/T—likely pathogenic
rs249289346610:102,509,613T/C—uncertain significance
rs249289348410:102,509,616G/A—uncertain significance
rs213383393010:102,509,618C/T—likely benign
rs184537033410:102,509,624C/T—uncertain significance
rs58777770810:102,509,626G/Amissense variantuncertain significance
rs128906636510:102,509,627G/A—likely benign
rs138673806510:102,509,633G/A—likely benign
rs213383394810:102,509,634C/T—likely pathogenic
rs14639295410:102,509,636G/A—likely benign
rs213383398710:102,509,641G/T—likely pathogenic
rs76513031010:102,509,645C/T—likely benign
rs88603775510:102,509,646G/Amissense variantpathogenic
rs249289366110:102,509,647G/A—uncertain significance
rs249289366710:102,509,649T/C—uncertain significance
rs158981235510:102,509,653T/C—uncertain significance
rs184537130810:102,509,654C/G—uncertain significance
rs249289373810:102,509,657C/G—uncertain significance
rs249289374810:102,509,662T/A—uncertain significance
rs184537139610:102,509,663C/T—likely benign
rs213383402710:102,509,670A/G—likely pathogenic
rs10489417010:102,509,671G/Cmissense variantpathogenic
rs249289382410:102,509,672G/T—pathogenic
rs249289382910:102,509,676G/A—uncertain significance
rs74557855710:102,509,678G/T—likely benign
rs54650513210:102,509,683G/A—likely benign
rs76410413010:102,509,689G/A—likely benign
rs1225931310:102,509,971C/T—benign
rs1181707010:102,510,294G/A—benign
rs76958298310:102,510,431C/T—likely benign
rs115898789110:102,510,434C/T—likely benign
rs37388877810:102,510,435G/A—likely benign
rs75564818010:102,510,438T/C—likely benign
rs184540762010:102,510,440T/C—likely benign
rs36961543010:102,510,443C/A—likely pathogenic
rs76775794410:102,510,446C/T—benign

Showing 100 of 359 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.