WBP2

WW domain binding protein 2

Summary

The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]

Known Variants87 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37258035317:73,842,836C/T—likely benign
rs214391358417:73,842,850G/T—uncertain significance
rs76029588917:73,842,857C/T—likely benign
rs118435575517:73,842,861G/A—uncertain significance
rs37276571917:73,842,881G/A—benign
rs254599236317:73,842,885G/A—likely benign
rs230591417:73,842,892C/T—benign
rs145354023317:73,842,990G/A—uncertain significance
rs13901759817:73,842,998G/A—likely benign
rs74753086917:73,843,004G/A—likely benign
rs36758151217:73,843,039C/T—uncertain significance
rs3517194717:73,843,040G/A—benign
rs155560454917:73,843,050G/A—no classifications from unflagged records
rs53183693417:73,843,074G/A—likely benign
rs75202228417:73,843,083C/A—likely benign
rs11240271117:73,843,182A/G—benign
rs37652848217:73,843,548C/T—likely benign
rs37695770717:73,843,557A/G—likely benign
rs37501895917:73,843,589C/T—uncertain significance
rs76433909117:73,843,596G/A—likely benign
rs118029820917:73,843,603G/A—uncertain significance
rs254599339417:73,843,609T/C—uncertain significance
rs14589144217:73,843,616G/A—uncertain significance
rs75793428717:73,843,621G/A—uncertain significance
rs14963514917:73,843,626G/A—benign
rs3507131417:73,843,629C/T—benign
rs103658918717:73,843,630G/A—uncertain significance
rs76958354217:73,843,636G/A—uncertain significance
rs124169643017:73,843,658C/G—uncertain significance
rs76220867117:73,843,662G/A—likely benign
rs55372329117:73,843,665C/T—uncertain significance
rs14011294517:73,843,696C/T—benign
rs14382321017:73,843,697G/A—likely benign
rs56537374417:73,843,704G/C—likely benign
rs7705158517:73,843,767G/A—benign
rs77086327217:73,843,884G/A—likely benign
rs37333559217:73,843,891G/T—uncertain significance
rs20042708817:73,843,901A/G—likely benign
rs155560471017:73,843,922T/G—no classifications from unflagged records
rs20202202417:73,843,931C/Tmissense variantno classifications from unflagged records
rs37410702617:73,843,932G/A—likely benign
rs77371569217:73,843,943G/C—uncertain significance
rs74978483317:73,843,954G/T—uncertain significance
rs77462582417:73,843,959G/A—likely benign
rs18298947917:73,844,002C/T—uncertain significance
rs129430247717:73,844,014A/C—uncertain significance
rs76506110717:73,844,015C/T—likely benign
rs75024325917:73,844,023A/G—likely benign
rs7286037917:73,844,637C/T—likely benign
rs74941913217:73,844,638G/A—likely benign
rs127633020217:73,844,667G/A—likely benign
rs13842632017:73,844,674C/T—likely benign
rs37656807217:73,844,702C/T—uncertain significance
rs74754559617:73,844,703C/T—likely benign
rs138613669417:73,844,704G/A—uncertain significance
rs229077117:73,844,748A/G—benign
rs18425223117:73,844,751G/T—benign
rs75537471617:73,844,762T/C—likely benign
rs254599492917:73,844,763G/A—likely benign
rs75056012117:73,845,679A/T—uncertain significance
rs75525281717:73,845,692T/G—uncertain significance
rs75584833517:73,845,713G/A—likely benign
rs214392374917:73,845,817T/C—uncertain significance
rs14895404217:73,845,840G/A—likely benign
rs93639317:73,847,613A/G—benign
rs37378673517:73,847,630G/T—likely benign
rs74675160517:73,847,631C/T—likely benign
rs77096899117:73,847,656G/C—likely pathogenic
rs14930098017:73,847,681T/C—uncertain significance
rs75001572617:73,847,709C/T—likely benign
rs14741646917:73,847,719T/C—conflicting classifications of pathogenicity
rs37026656217:73,847,729G/A—uncertain significance
rs206502829717:73,847,740T/C—uncertain significance
rs74589919317:73,847,743T/C—uncertain significance
rs37497724917:73,847,746G/A—uncertain significance
rs254599707417:73,847,757G/A—likely benign
rs206502855817:73,847,762G/C—likely benign
rs93639217:73,847,798G/A—benign
rs93639117:73,847,799G/A—benign
rs722082617:73,847,880C/T—benign
rs53548775217:73,848,542T/C——
rs5836374617:73,850,819C/A——
rs5586839417:73,851,113C/A—benign
rs131885141217:73,851,332T/C—uncertain significance
rs19989533217:73,851,360G/A—uncertain significance
rs93639417:73,852,008C/G——
rs93639517:73,852,116G/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.