MLH1
mutL homolog 1
Summary
The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
Known Variants2,712 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9311149 | 3:37,030,175 | C/A | — | benign |
| rs34566456 | 3:37,034,446 | G/C | — | benign |
| rs746415556 | 3:37,034,562 | T/C | — | uncertain significance |
| rs369929465 | 3:37,034,615 | G/A | — | likely benign |
| rs1251265704 | 3:37,034,621 | A/C | — | likely benign |
| rs909124447 | 3:37,034,625 | G/A | — | likely benign |
| rs1374961081 | 3:37,034,633 | A/T | — | likely benign |
| rs942107622 | 3:37,034,638 | C/G | — | likely benign |
| rs1184999757 | 3:37,034,670 | A/G | — | uncertain significance |
| rs1575372692 | 3:37,034,702 | C/T | — | uncertain significance |
| rs876658267 | 3:37,034,705 | C/T | — | uncertain significance |
| rs876659507 | 3:37,034,707 | C/T | — | uncertain significance |
| rs2470589413 | 3:37,034,712 | C/G | — | uncertain significance |
| rs1575372721 | 3:37,034,713 | C/T | — | uncertain significance |
| rs894594084 | 3:37,034,714 | T/C | — | uncertain significance |
| rs564460159 | 3:37,034,715 | A/G | — | uncertain significance |
| rs2470589470 | 3:37,034,719 | G/C | — | uncertain significance |
| rs2125691530 | 3:37,034,731 | G/A | — | uncertain significance |
| rs2470589551 | 3:37,034,732 | T/A | — | uncertain significance |
| rs2470589581 | 3:37,034,735 | T/A | — | uncertain significance |
| rs587782110 | 3:37,034,736 | C/T | — | uncertain significance |
| rs1575372815 | 3:37,034,737 | C/T | — | uncertain significance |
| rs2080858485 | 3:37,034,738 | C/T | — | uncertain significance |
| rs1575372827 | 3:37,034,739 | C/G | — | uncertain significance |
| rs1575372838 | 3:37,034,740 | G/A | — | uncertain significance |
| rs2470589655 | 3:37,034,741 | A/G | — | uncertain significance |
| rs2470589687 | 3:37,034,744 | T/A | — | uncertain significance |
| rs1372331061 | 3:37,034,745 | C/G | — | uncertain significance |
| rs1249105499 | 3:37,034,746 | C/T | — | uncertain significance |
| rs587781929 | 3:37,034,751 | A/G | — | uncertain significance |
| rs1575372919 | 3:37,034,753 | C/T | — | uncertain significance |
| rs876659532 | 3:37,034,754 | G/T | — | uncertain significance |
| rs876658200 | 3:37,034,759 | A/G | — | uncertain significance |
| rs587782167 | 3:37,034,760 | A/G | — | uncertain significance |
| rs1164676006 | 3:37,034,765 | A/C | — | uncertain significance |
| rs1575373009 | 3:37,034,766 | A/G | — | uncertain significance |
| rs2470589898 | 3:37,034,769 | G/A | — | uncertain significance |
| rs35032294 | 3:37,034,770 | C/T | — | uncertain significance |
| rs2470589943 | 3:37,034,773 | A/G | — | uncertain significance |
| rs2080859970 | 3:37,034,774 | C/A | — | uncertain significance |
| rs112765329 | 3:37,034,777 | C/A | — | uncertain significance |
| rs587782685 | 3:37,034,778 | G/A | — | uncertain significance |
| rs1575373090 | 3:37,034,780 | T/C | — | uncertain significance |
| rs2470590061 | 3:37,034,781 | C/A | — | uncertain significance |
| rs1439880824 | 3:37,034,782 | T/G | — | uncertain significance |
| rs2470590099 | 3:37,034,783 | C/A | — | uncertain significance |
| rs2470590117 | 3:37,034,785 | A/G | — | uncertain significance |
| rs1000607663 | 3:37,034,786 | A/C | — | uncertain significance |
| rs549943873 | 3:37,034,787 | C/T | — | uncertain significance |
| rs587781731 | 3:37,034,788 | G/T | — | likely benign |
| rs2080860963 | 3:37,034,789 | C/A | — | uncertain significance |
| rs1019716048 | 3:37,034,790 | G/C | — | uncertain significance |
| rs786202942 | 3:37,034,791 | C/G | — | uncertain significance |
| rs786202361 | 3:37,034,795 | C/T | — | uncertain significance |
| rs2470590270 | 3:37,034,796 | G/C | — | uncertain significance |
| rs1575373221 | 3:37,034,798 | A/G | — | uncertain significance |
| rs1575373280 | 3:37,034,804 | T/A | — | uncertain significance |
| rs1350241720 | 3:37,034,806 | C/G | — | uncertain significance |
| rs587782631 | 3:37,034,809 | G/C | — | likely benign |
| rs1236650655 | 3:37,034,810 | G/A | — | uncertain significance |
| rs1575373407 | 3:37,034,812 | A/G | — | uncertain significance |
| rs1430228880 | 3:37,034,815 | G/T | — | uncertain significance |
| rs969594649 | 3:37,034,816 | G/A | — | uncertain significance |
| rs1405374403 | 3:37,034,817 | G/A | — | uncertain significance |
| rs587781922 | 3:37,034,818 | C/G | — | uncertain significance |
| rs909378684 | 3:37,034,819 | A/C | — | uncertain significance |
| rs1575373603 | 3:37,034,820 | G/T | — | uncertain significance |
| rs876659437 | 3:37,034,821 | T/C | — | uncertain significance |
| rs942160251 | 3:37,034,822 | A/T | — | uncertain significance |
| rs2080864714 | 3:37,034,823 | G/A | — | uncertain significance |
| rs1575373681 | 3:37,034,824 | C/A | — | uncertain significance |
| rs747638491 | 3:37,034,825 | C/G | — | uncertain significance |
| rs576245824 | 3:37,034,826 | G/A | — | uncertain significance |
| rs876659402 | 3:37,034,829 | T/G | — | uncertain significance |
| rs2080865743 | 3:37,034,830 | C/T | — | uncertain significance |
| rs2470591331 | 3:37,034,831 | A/G | — | uncertain significance |
| rs1575373775 | 3:37,034,832 | G/A | — | uncertain significance |
| rs2470591401 | 3:37,034,833 | G/T | — | uncertain significance |
| rs786202911 | 3:37,034,834 | G/T | — | uncertain significance |
| rs2470591486 | 3:37,034,836 | G/A | — | uncertain significance |
| rs1575373847 | 3:37,034,837 | G/A | — | uncertain significance |
| rs876658269 | 3:37,034,840 | C/T | — | uncertain significance |
| rs529363061 | 3:37,034,841 | G/A | — | uncertain significance |
| rs2470591636 | 3:37,034,843 | A/G | — | uncertain significance |
| rs2470591710 | 3:37,034,844 | G/T | — | uncertain significance |
| rs565891017 | 3:37,034,922 | G/T | — | conflicting classifications of pathogenicity |
| rs886058380 | 3:37,034,925 | T/C | — | uncertain significance |
| rs587778886 | 3:37,034,932 | C/G | — | pathogenic |
| rs772482820 | 3:37,034,938 | C/G | — | uncertain significance |
| rs4647204 | 3:37,034,939 | T/C | — | likely benign |
| rs1800734 | 3:37,034,946 | G/A | regulatory region variant | benign |
| rs558051715 | 3:37,034,953 | G/A | — | uncertain significance |
| rs1306362496 | 3:37,034,976 | G/A | — | uncertain significance |
| rs1417531095 | 3:37,034,977 | T/C | — | uncertain significance |
| rs1064794749 | 3:37,034,991 | C/T | — | uncertain significance |
| rs587781459 | 3:37,034,996 | C/T | — | uncertain significance |
| rs41285097 | 3:37,034,997 | C/G | — | uncertain significance |
| rs749884419 | 3:37,035,002 | A/G | — | uncertain significance |
| rs1064794146 | 3:37,035,004 | C/T | — | uncertain significance |
| rs780702356 | 3:37,035,005 | A/C | — | likely benign |
Showing 100 of 2,712 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.