EXO1
exonuclease 1
Summary
This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3754093 | 1:242,010,116 | A/G | upstream gene variant | — |
| rs10802996 | 1:242,010,627 | C/G | regulatory region variant | — |
| rs1776180 | 1:242,011,344 | C/T | — | — |
| rs1635517 | 1:242,012,033 | G/A | splice region variant | — |
| rs1776177 | 1:242,012,149 | C/T | regulatory region variant | — |
| rs372301145 | 1:242,013,800 | C/A | — | uncertain significance |
| rs4149857 | 1:242,013,826 | C/T | — | benign |
| rs1479455432 | 1:242,013,846 | T/C | — | uncertain significance |
| rs368776946 | 1:242,013,896 | T/C | — | likely benign |
| rs4149863 | 1:242,015,591 | T/C | — | benign |
| rs199625132 | 1:242,015,649 | C/T | — | uncertain significance |
| rs4149864 | 1:242,015,658 | G/A | — | benign |
| rs4149865 | 1:242,015,709 | A/G | — | benign |
| rs143546023 | 1:242,016,703 | G/A | — | uncertain significance |
| rs367890594 | 1:242,016,717 | G/A | — | likely benign |
| rs751977225 | 1:242,016,755 | C/T | — | uncertain significance |
| rs2236918 | 1:242,017,826 | C/G | intron variant | — |
| rs2526700 | 1:242,019,999 | C/T | — | — |
| rs764663715 | 1:242,020,654 | G/A | — | uncertain significance |
| rs749231655 | 1:242,020,676 | C/G | — | likely benign |
| rs1371529825 | 1:242,020,677 | G/A | — | uncertain significance |
| rs143955774 | 1:242,020,699 | C/T | — | uncertain significance |
| rs2464648617 | 1:242,020,735 | A/G | — | uncertain significance |
| rs147677398 | 1:242,021,810 | A/G | — | likely benign |
| rs1661189716 | 1:242,021,812 | T/C | — | uncertain significance |
| rs1661189860 | 1:242,021,819 | G/T | — | uncertain significance |
| rs4149901 | 1:242,021,834 | A/G | — | likely benign |
| rs560299246 | 1:242,021,896 | C/T | — | uncertain significance |
| rs773014713 | 1:242,021,911 | G/A | — | uncertain significance |
| rs2464661619 | 1:242,021,965 | G/T | — | uncertain significance |
| rs770549019 | 1:242,021,985 | G/C | — | uncertain significance |
| rs1186055154 | 1:242,022,006 | C/T | — | uncertain significance |
| rs61750993 | 1:242,022,009 | G/A | — | likely benign |
| rs149397534 | 1:242,023,882 | G/A | — | conflicting classifications of pathogenicity |
| rs4149909 | 1:242,023,898 | A/G | — | benign |
| rs200754492 | 1:242,023,901 | A/G | — | uncertain significance |
| rs4149910 | 1:242,023,958 | A/G | — | benign |
| rs569695378 | 1:242,024,004 | G/T | — | likely benign |
| rs751405652 | 1:242,024,764 | C/G | — | uncertain significance |
| rs2464693854 | 1:242,024,796 | A/G | — | uncertain significance |
| rs1635509 | 1:242,028,027 | C/T | intron variant | — |
| rs735943 | 1:242,030,151 | A/G | — | benign |
| rs2464748709 | 1:242,030,205 | A/G | — | uncertain significance |
| rs2464749269 | 1:242,030,240 | G/C | — | uncertain significance |
| rs72755295 | 1:242,034,263 | A/G | intron variant | — |
| rs146098746 | 1:242,035,334 | C/A | — | likely benign |
| rs4149963 | 1:242,035,382 | C/T | — | benign |
| rs1390425908 | 1:242,035,415 | A/G | — | uncertain significance |
| rs1312078164 | 1:242,035,427 | G/A | — | likely benign |
| rs149663738 | 1:242,035,430 | T/C | — | likely benign |
| rs4149964 | 1:242,035,433 | C/A | — | benign |
| rs4149965 | 1:242,035,438 | A/G | — | benign |
| rs4149966 | 1:242,035,444 | G/C | — | benign |
| rs4149967 | 1:242,035,574 | G/C | — | uncertain significance |
| rs1635501 | 1:242,040,775 | C/T | intron variant | — |
| rs1024525498 | 1:242,042,051 | G/T | — | uncertain significance |
| rs2464880905 | 1:242,042,119 | C/G | — | uncertain significance |
| rs568600790 | 1:242,042,131 | A/G | — | uncertain significance |
| rs765012224 | 1:242,042,133 | A/G | — | uncertain significance |
| rs1662564876 | 1:242,042,196 | G/T | — | uncertain significance |
| rs145789527 | 1:242,042,205 | C/T | — | uncertain significance |
| rs143800705 | 1:242,042,206 | G/A | — | likely benign |
| rs754886009 | 1:242,042,228 | G/A | — | likely benign |
| rs1047840 | 1:242,042,301 | G/A | missense variant | benign |
| rs145018286 | 1:242,042,312 | A/G | — | likely benign |
| rs12122770 | 1:242,042,364 | A/G | — | likely benign |
| rs183863413 | 1:242,042,399 | G/A | — | likely benign |
| rs4149978 | 1:242,042,437 | G/A | — | likely benign |
| rs763523848 | 1:242,042,447 | C/T | — | likely benign |
| rs61736331 | 1:242,042,454 | C/T | — | benign |
| rs1662590820 | 1:242,042,461 | C/G | — | uncertain significance |
| rs4149979 | 1:242,042,519 | C/T | — | likely benign |
| rs1776148 | 1:242,042,545 | A/G | missense variant | benign |
| rs746113983 | 1:242,042,654 | A/C | — | likely benign |
| rs187737160 | 1:242,045,263 | A/G | — | uncertain significance |
| rs1635498 | 1:242,045,275 | C/T | missense variant | benign |
| rs2464917144 | 1:242,045,296 | A/G | — | uncertain significance |
| rs4150000 | 1:242,048,615 | G/C | — | conflicting classifications of pathogenicity |
| rs921758551 | 1:242,048,659 | C/T | — | uncertain significance |
| rs9350 | 1:242,048,674 | C/T | missense variant | benign |
| rs4150001 | 1:242,048,680 | G/A | — | likely benign |
| rs770973852 | 1:242,048,819 | C/T | — | likely benign |
| rs1001293843 | 1:242,052,844 | A/C | — | uncertain significance |
| rs851797 | 1:242,053,042 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.