MCM3AP

minichromosome maintenance complex component 3 associated protein

Summary

The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]

Known Variants1,149 total

rsidPosition (GRCh37)AllelesClassClinVar
rs229869521:47,655,027A/C—benign
rs14699925621:47,655,197G/A—likely benign
rs122031097821:47,655,199C/T—uncertain significance
rs76282281721:47,655,206C/T—likely benign
rs76396996921:47,655,207G/A—uncertain significance
rs144081879621:47,655,208C/G—uncertain significance
rs141457036221:47,655,222T/C—uncertain significance
rs212378872621:47,655,246G/C—uncertain significance
rs145289123121:47,655,250T/C—uncertain significance
rs55915526521:47,655,252C/T—uncertain significance
rs92430413321:47,655,253G/A—uncertain significance
rs75692177321:47,655,263T/C—likely benign
rs78067230921:47,655,275T/G—likely benign
rs208050108521:47,655,277G/C—uncertain significance
rs37417871121:47,655,279C/G—uncertain significance
rs74539247621:47,655,280G/A—uncertain significance
rs251727692721:47,655,289G/A—likely benign
rs57752045321:47,655,293C/G—likely benign
rs14109825221:47,655,294G/A—uncertain significance
rs76166066821:47,655,295T/C—uncertain significance
rs76778366221:47,655,297C/T—uncertain significance
rs56259394121:47,655,298C/G—uncertain significance
rs76636210721:47,655,300G/T—uncertain significance
rs14175760721:47,655,302C/T—likely benign
rs135188141421:47,655,305C/T—likely benign
rs57461180621:47,655,308T/C—benign
rs212378914821:47,655,312A/G—uncertain significance
rs54189250621:47,655,313G/A—benign
rs78091393821:47,655,319G/A—likely benign
rs20194678221:47,655,327C/T—uncertain significance
rs96001736421:47,655,343A/G—uncertain significance
rs37386575621:47,655,346T/A—likely benign
rs137418767821:47,655,349A/G—likely benign
rs74796924321:47,655,350T/A—likely benign
rs251727746221:47,655,353A/G—likely benign
rs283916521:47,655,541G/C—benign
rs1697900621:47,656,664C/T—benign
rs283916621:47,656,712C/T—benign
rs56160716521:47,656,731C/T—likely benign
rs1718336821:47,656,732G/T—likely benign
rs251728218121:47,656,750C/A—uncertain significance
rs13953353921:47,656,751T/C—uncertain significance
rs251728224921:47,656,757T/C—uncertain significance
rs212379532421:47,656,762G/A—uncertain significance
rs251728236121:47,656,764T/A—likely benign
rs212379536521:47,656,774A/G—uncertain significance
rs91192559121:47,656,783A/G—uncertain significance
rs76985452321:47,656,784T/C—uncertain significance
rs76457137221:47,656,798G/C—uncertain significance
rs15041011121:47,656,800C/T—likely benign
rs20119691121:47,656,814G/A—conflicting classifications of pathogenicity
rs19967552921:47,656,821G/C—likely benign
rs75352694121:47,656,823G/A—uncertain significance
rs122109830321:47,656,830G/A—likely benign
rs104257900921:47,656,843G/A—uncertain significance
rs37551193021:47,656,872T/C—likely benign
rs78145543821:47,656,876T/C—uncertain significance
rs74608898621:47,656,885T/C—uncertain significance
rs208054194421:47,656,900C/T—likely benign
rs812710521:47,657,085G/A—benign
rs156904971821:47,660,710G/A—likely benign
rs251729602021:47,660,713A/G—likely benign
rs75785366921:47,660,730G/C—uncertain significance
rs212381064321:47,660,736T/C—likely benign
rs75711377521:47,660,739T/G—uncertain significance
rs78093688521:47,660,742C/G—uncertain significance
rs251729617921:47,660,743T/C—uncertain significance
rs1717693321:47,660,749A/C—benign
rs77009450621:47,660,760C/T—likely benign
rs74933387021:47,660,761G/A—uncertain significance
rs74865627021:47,660,772C/T—likely benign
rs147448498621:47,660,774C/T—uncertain significance
rs251729651721:47,660,793A/G—likely benign
rs56274162521:47,660,795C/T—uncertain significance
rs18256511721:47,660,803A/G—likely benign
rs76739452121:47,660,810C/T—uncertain significance
rs75584055221:47,660,815G/A—uncertain significance
rs75505070321:47,660,837G/A—likely pathogenic
rs146033842821:47,660,838A/G—likely benign
rs251729698721:47,660,839G/A—uncertain significance
rs124809539921:47,660,840C/T—uncertain significance
rs77273472321:47,660,844C/T—likely benign
rs20210355021:47,660,845T/C—uncertain significance
rs77141191921:47,660,846C/G—uncertain significance
rs94349725721:47,660,865A/G—likely benign
rs76589507721:47,660,866C/T—uncertain significance
rs229869721:47,660,867G/C—uncertain significance
rs251729730221:47,660,874G/C—uncertain significance
rs156905018021:47,660,889G/A—likely benign
rs20122773621:47,660,891G/A—uncertain significance
rs37104645021:47,660,896T/C—uncertain significance
rs251729746421:47,660,898G/A—likely benign
rs77895965821:47,660,901T/C—likely benign
rs76606202021:47,660,902G/A—uncertain significance
rs212381187921:47,660,918G/C—uncertain significance
rs123973517821:47,660,921T/G—uncertain significance
rs148948782121:47,660,929A/G—uncertain significance
rs74751729521:47,660,930A/G—likely benign
rs37528581521:47,660,935T/G—likely benign
rs92603855521:47,660,951A/T—likely benign

Showing 100 of 1,149 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.