MCM4
minichromosome maintenance complex component 4
Summary
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Known Variants524 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs180692385 | 8:48,872,951 | G/A | — | uncertain significance |
| rs886062968 | 8:48,873,004 | C/A | — | uncertain significance |
| rs570195176 | 8:48,873,204 | A/G | — | uncertain significance |
| rs571102789 | 8:48,873,226 | A/G | — | uncertain significance |
| rs537563295 | 8:48,873,232 | G/A | — | uncertain significance |
| rs539732672 | 8:48,873,252 | T/C | — | uncertain significance |
| rs1551655 | 8:48,873,261 | A/C | — | benign |
| rs546045069 | 8:48,873,298 | G/A | — | uncertain significance |
| rs17334298 | 8:48,873,333 | G/A | — | uncertain significance |
| rs886062970 | 8:48,873,358 | C/A | — | uncertain significance |
| rs17334305 | 8:48,873,452 | T/C | — | uncertain significance |
| rs17287526 | 8:48,873,500 | C/T | — | uncertain significance |
| rs921147935 | 8:48,873,512 | G/A | — | uncertain significance |
| rs559247482 | 8:48,873,515 | C/T | — | uncertain significance |
| rs17287533 | 8:48,873,521 | G/T | — | uncertain significance |
| rs552020479 | 8:48,873,524 | A/T | — | likely benign |
| rs886062972 | 8:48,873,541 | G/T | — | uncertain significance |
| rs1166597379 | 8:48,873,556 | A/G | — | uncertain significance |
| rs891829243 | 8:48,873,629 | C/T | — | uncertain significance |
| rs886062973 | 8:48,873,641 | G/A | — | uncertain significance |
| rs577633841 | 8:48,873,650 | C/T | — | benign |
| rs2090820585 | 8:48,873,652 | G/A | — | uncertain significance |
| rs749871553 | 8:48,873,709 | C/G | — | uncertain significance |
| rs2551883065 | 8:48,873,714 | C/G | — | uncertain significance |
| rs754705495 | 8:48,873,729 | A/C | — | uncertain significance |
| rs780975597 | 8:48,873,733 | G/T | — | uncertain significance |
| rs369039102 | 8:48,873,735 | C/G | — | uncertain significance |
| rs373828622 | 8:48,873,737 | C/T | — | likely benign |
| rs745911030 | 8:48,873,742 | G/T | — | uncertain significance |
| rs2154504939 | 8:48,873,752 | A/G | — | likely benign |
| rs113188239 | 8:48,873,755 | G/A | — | likely benign |
| rs2551883081 | 8:48,873,759 | A/C | — | uncertain significance |
| rs1044526654 | 8:48,873,764 | C/T | — | likely benign |
| rs769093390 | 8:48,873,765 | G/A | — | uncertain significance |
| rs2090825183 | 8:48,873,771 | A/C | — | uncertain significance |
| rs1281405597 | 8:48,873,772 | C/T | — | uncertain significance |
| rs765819584 | 8:48,873,785 | C/T | — | likely benign |
| rs919918007 | 8:48,873,786 | G/C | — | likely benign |
| rs1589826229 | 8:48,873,788 | G/A | — | likely benign |
| rs2154504941 | 8:48,873,792 | G/A | — | likely benign |
| rs140106810 | 8:48,873,982 | C/T | — | benign |
| rs571767460 | 8:48,874,057 | C/T | — | likely benign |
| rs377296239 | 8:48,874,060 | T/C | — | likely benign |
| rs369552821 | 8:48,874,068 | G/C | — | likely benign |
| rs2090834113 | 8:48,874,070 | C/T | — | likely benign |
| rs1563829725 | 8:48,874,074 | A/G | — | pathogenic |
| rs773938825 | 8:48,874,076 | C/T | — | uncertain significance |
| rs2154504957 | 8:48,874,082 | G/A | — | uncertain significance |
| rs1356892224 | 8:48,874,094 | G/A | — | uncertain significance |
| rs755898364 | 8:48,874,103 | C/T | — | uncertain significance |
| rs199890906 | 8:48,874,104 | C/T | — | conflicting classifications of pathogenicity |
| rs200577338 | 8:48,874,115 | G/A | — | uncertain significance |
| rs748390153 | 8:48,874,133 | C/T | — | uncertain significance |
| rs749314247 | 8:48,874,134 | C/T | — | likely benign |
| rs2090836329 | 8:48,874,140 | G/A | — | likely benign |
| rs771028003 | 8:48,874,146 | G/A | — | likely benign |
| rs147886592 | 8:48,874,153 | C/T | — | uncertain significance |
| rs2090836684 | 8:48,874,156 | A/T | — | uncertain significance |
| rs1486560672 | 8:48,874,157 | T/A | — | uncertain significance |
| rs774767030 | 8:48,874,158 | G/A | — | uncertain significance |
| rs2551883226 | 8:48,874,160 | C/T | — | uncertain significance |
| rs200598421 | 8:48,874,162 | A/G | — | conflicting classifications of pathogenicity |
| rs775056163 | 8:48,874,164 | C/T | — | conflicting classifications of pathogenicity |
| rs2551883227 | 8:48,874,166 | C/T | — | uncertain significance |
| rs1489134595 | 8:48,874,172 | G/A | — | uncertain significance |
| rs577919855 | 8:48,874,174 | G/A | — | uncertain significance |
| rs1258650632 | 8:48,874,177 | G/C | — | uncertain significance |
| rs1443322079 | 8:48,874,178 | A/G | — | uncertain significance |
| rs1034067956 | 8:48,874,189 | C/T | — | uncertain significance |
| rs564059293 | 8:48,874,190 | C/G | — | uncertain significance |
| rs886062974 | 8:48,874,192 | G/T | — | uncertain significance |
| rs1464698644 | 8:48,874,195 | G/A | — | uncertain significance |
| rs1056790 | 8:48,874,201 | G/C | — | uncertain significance |
| rs755044869 | 8:48,874,204 | G/A | — | uncertain significance |
| rs1235010442 | 8:48,874,225 | C/T | — | likely pathogenic |
| rs1183283519 | 8:48,874,227 | A/G | — | likely benign |
| rs752922408 | 8:48,874,232 | A/G | — | uncertain significance |
| rs1204911889 | 8:48,874,240 | G/C | — | uncertain significance |
| rs749639468 | 8:48,874,244 | C/G | — | uncertain significance |
| rs779386984 | 8:48,874,247 | G/A | — | likely benign |
| rs1431492436 | 8:48,874,254 | G/C | — | likely benign |
| rs1563829988 | 8:48,874,255 | A/G | — | likely benign |
| rs1178584797 | 8:48,874,257 | C/G | — | likely benign |
| rs2090845947 | 8:48,874,593 | T/C | — | likely benign |
| rs780589131 | 8:48,874,597 | A/G | — | likely benign |
| rs2305952 | 8:48,874,609 | A/G | — | benign |
| rs148927296 | 8:48,874,617 | C/T | — | conflicting classifications of pathogenicity |
| rs886062975 | 8:48,874,618 | C/T | — | uncertain significance |
| rs760802348 | 8:48,874,630 | G/T | — | uncertain significance |
| rs370223383 | 8:48,874,638 | T/C | — | likely benign |
| rs750765683 | 8:48,874,653 | C/T | — | likely benign |
| rs911896888 | 8:48,874,660 | C/G | — | uncertain significance |
| rs371518919 | 8:48,874,669 | C/T | — | uncertain significance |
| rs966403056 | 8:48,874,670 | G/A | — | uncertain significance |
| rs2154504995 | 8:48,874,673 | T/C | — | uncertain significance |
| rs1563830466 | 8:48,874,688 | G/A | — | uncertain significance |
| rs749518983 | 8:48,874,703 | G/A | — | uncertain significance |
| rs759404263 | 8:48,874,710 | T/A | — | likely benign |
| rs1048196910 | 8:48,874,729 | C/T | — | likely benign |
| rs2551883409 | 8:48,874,740 | A/G | — | likely benign |
Showing 100 of 524 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.