REPS1

RALBP1 associated Eps domain containing 1

Summary

This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Known Variants176 total

rsidPosition (GRCh37)AllelesClassClinVar
rs27504116:139,226,630T/A——
rs26987376:139,226,719C/Tdownstream gene variant—
rs7522938806:139,228,624T/C—benign
rs17797383596:139,228,650T/C—likely benign
rs7795892516:139,228,652C/T—uncertain significance
rs7604041306:139,228,653G/A—likely benign
rs9036807376:139,228,728C/T—likely benign
rs3706896186:139,228,747T/C—likely benign
rs12994583946:139,228,755G/A—likely benign
rs2002244036:139,229,814G/A—uncertain significance
rs24825377966:139,229,822T/G—likely benign
rs7670227636:139,229,823G/A—uncertain significance
rs24825380126:139,229,826G/A—uncertain significance
rs2014859856:139,229,850G/A—conflicting classifications of pathogenicity
rs24825390516:139,229,856T/G—uncertain significance
rs24825392836:139,229,866C/G—uncertain significance
rs7779469776:139,229,867A/G—likely benign
rs10444186:139,229,872C/T—benign
rs21284244756:139,229,914C/T—uncertain significance
rs24825405876:139,229,920T/C—uncertain significance
rs170680486:139,229,960G/A—benign
rs7639499996:139,229,965G/T—likely benign
rs21284245976:139,229,968T/C—likely benign
rs1442262466:139,232,424G/A—likely benign
rs760828326:139,232,443T/G—benign
rs1436152166:139,232,461T/C—likely benign
rs15625104836:139,232,495G/C—uncertain significance
rs7728867526:139,232,516T/C—likely benign
rs7487738346:139,232,519A/G—likely benign
rs13326139656:139,232,528T/A—likely benign
rs13075982976:139,233,891C/A—likely benign
rs7525787706:139,233,892G/A—uncertain significance
rs1168144986:139,233,903G/A—conflicting classifications of pathogenicity
rs24825991076:139,233,904G/A—uncertain significance
rs17800933366:139,233,917A/G—likely benign
rs1406174486:139,233,926G/A—benign
rs2003200516:139,233,939T/C—likely benign
rs1403871776:139,233,946C/T—conflicting classifications of pathogenicity
rs13482879866:139,233,973C/T—uncertain significance
rs12368564226:139,233,978T/G—uncertain significance
rs17801003646:139,234,000G/T—uncertain significance
rs1378808956:139,234,034G/A—likely benign
rs1419310036:139,234,038G/A—uncertain significance
rs2022294166:139,234,042T/C—uncertain significance
rs7746735636:139,234,052G/A—likely benign
rs15625125396:139,234,068T/C—uncertain significance
rs7527163436:139,234,070C/T—likely benign
rs1422561556:139,234,084G/A—likely benign
rs1448159436:139,234,094A/G—likely benign
rs24826050906:139,234,106C/G—likely benign
rs11850760166:139,235,896G/C—uncertain significance
rs2013799006:139,235,897T/C—likely benign
rs7659220106:139,235,912A/C—likely benign
rs3777195146:139,236,985T/C—likely benign
rs8935140216:139,236,988C/T—likely benign
rs7627052566:139,237,016G/A—uncertain significance
rs3712710656:139,237,026T/C—likely benign
rs12549484206:139,237,046G/C—uncertain significance
rs3746516586:139,237,051G/A—uncertain significance
rs7795319686:139,237,063G/C—uncertain significance
rs3682098926:139,237,095C/T—likely benign
rs3730348416:139,237,099G/A—uncertain significance
rs7740561256:139,237,131T/C—likely benign
rs12035798616:139,238,673C/G—likely benign
rs7716542466:139,238,698C/T—uncertain significance
rs94952856:139,241,332A/G—benign
rs7467283156:139,241,361T/A—uncertain significance
rs24827116736:139,241,363C/G—uncertain significance
rs9152121076:139,241,369G/C—uncertain significance
rs356957216:139,241,371G/A—benign
rs7598313986:139,241,395A/G—likely benign
rs7642719846:139,241,428T/C—likely benign
rs7584087026:139,241,449A/G—likely benign
rs21284436336:139,241,453T/C—uncertain significance
rs3739594936:139,242,163A/G—likely benign
rs14127614446:139,242,171T/G—uncertain significance
rs1419965886:139,242,175G/A—uncertain significance
rs17807211386:139,242,185C/A—uncertain significance
rs7693240646:139,242,208G/A—likely benign
rs7768598986:139,242,255C/T—uncertain significance
rs7525696006:139,247,550T/C—likely benign
rs24828002316:139,247,552C/T—uncertain significance
rs3768335926:139,247,556G/A—likely benign
rs24828006076:139,247,580T/C—likely benign
rs7534232176:139,247,596C/T—uncertain significance
rs12957727266:139,251,106T/C—likely benign
rs9100149206:139,251,154G/A—uncertain significance
rs3730497326:139,251,179G/A—likely benign
rs1401904926:139,251,205T/C—uncertain significance
rs3734612296:139,251,217C/T—uncertain significance
rs13952719926:139,251,239C/T—likely benign
rs24829746196:139,262,518A/G—likely benign
rs7677203586:139,262,537T/C—uncertain significance
rs14073480686:139,262,555A/G—uncertain significance
rs7507807046:139,262,597G/A—uncertain significance
rs7585907906:139,262,629A/G—uncertain significance
rs7799714596:139,264,656T/C—uncertain significance
rs1463037336:139,264,690T/A—uncertain significance
rs3686577486:139,264,733T/A—likely benign
rs21284738926:139,265,006T/C—likely benign

Showing 100 of 176 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.