XRCC1
X-ray repair cross complementing 1
Summary
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2682558 | 19:44,047,316 | C/T | — | — |
| rs3547 | 19:44,047,550 | T/C | — | benign |
| rs201967712 | 19:44,047,554 | G/A | — | uncertain significance |
| rs2513643932 | 19:44,047,564 | C/T | — | uncertain significance |
| rs199876205 | 19:44,047,624 | G/A | — | uncertain significance |
| rs755281928 | 19:44,047,656 | G/A | — | uncertain significance |
| rs140655170 | 19:44,047,814 | G/A | — | uncertain significance |
| rs748485435 | 19:44,047,819 | C/T | — | uncertain significance |
| rs368496910 | 19:44,047,823 | T/G | — | uncertain significance |
| rs2307182 | 19:44,047,839 | C/T | — | likely benign |
| rs2307166 | 19:44,048,330 | G/A | missense variant | — |
| rs2307167 | 19:44,048,332 | C/T | — | likely benign |
| rs1044999002 | 19:44,048,351 | C/T | — | uncertain significance |
| rs759410817 | 19:44,048,395 | G/C | — | likely benign |
| rs754460470 | 19:44,049,986 | T/C | — | likely benign |
| rs41561817 | 19:44,050,009 | G/T | — | uncertain significance |
| rs747431224 | 19:44,050,041 | C/G | — | uncertain significance |
| rs25479 | 19:44,050,195 | C/T | — | benign |
| rs762633450 | 19:44,050,206 | C/G | — | uncertain significance |
| rs2307184 | 19:44,050,231 | G/T | — | uncertain significance |
| rs1262692423 | 19:44,050,766 | G/A | — | likely benign |
| rs1555768154 | 19:44,050,780 | G/A | — | pathogenic |
| rs748777899 | 19:44,050,798 | C/T | — | uncertain significance |
| rs1380747491 | 19:44,050,863 | G/A | — | uncertain significance |
| rs761564262 | 19:44,051,036 | C/G | missense variant | pathogenic |
| rs2307179 | 19:44,051,108 | A/T | — | likely benign |
| rs2854502 | 19:44,053,542 | G/T | — | — |
| rs25487 | 19:44,055,726 | T/C | missense variant | drug response |
| rs200332207 | 19:44,055,760 | C/T | — | uncertain significance |
| rs201185839 | 19:44,055,843 | G/C | — | benign |
| rs25486 | 19:44,055,898 | C/T | downstream gene variant | — |
| rs377566281 | 19:44,056,235 | C/T | — | uncertain significance |
| rs574450911 | 19:44,056,236 | G/A | — | likely pathogenic |
| rs2513650176 | 19:44,056,270 | C/G | — | likely benign |
| rs2307173 | 19:44,056,273 | C/A | — | benign |
| rs25491 | 19:44,056,326 | G/A | — | uncertain significance |
| rs929967168 | 19:44,056,338 | C/T | — | uncertain significance |
| rs25490 | 19:44,056,341 | T/C | — | benign |
| rs3213366 | 19:44,056,351 | T/C | — | likely benign |
| rs200528601 | 19:44,056,352 | C/T | — | conflicting classifications of pathogenicity |
| rs904017527 | 19:44,056,371 | C/T | — | uncertain significance |
| rs757238066 | 19:44,056,382 | C/T | — | uncertain significance |
| rs146168662 | 19:44,056,400 | G/A | — | likely benign |
| rs25489 | 19:44,056,412 | C/T | missense variant | association |
| rs143917286 | 19:44,056,954 | G/A | — | likely benign |
| rs761650222 | 19:44,057,059 | G/A | — | uncertain significance |
| rs368837757 | 19:44,057,148 | C/T | — | uncertain significance |
| rs562926147 | 19:44,057,178 | A/C | — | likely benign |
| rs915927 | 19:44,057,227 | T/G | synonymous variant | benign |
| rs1799780 | 19:44,057,276 | G/A | — | association |
| rs1799782 | 19:44,057,574 | G/A | missense variant | benign |
| rs2307170 | 19:44,057,584 | G/C | — | likely benign |
| rs190563109 | 19:44,057,610 | C/T | — | likely benign |
| rs149187925 | 19:44,057,767 | C/T | — | benign |
| rs2307191 | 19:44,057,768 | G/A | — | benign |
| rs267605526 | 19:44,057,828 | G/C | — | uncertain significance |
| rs202006168 | 19:44,058,790 | C/T | — | likely benign |
| rs751463087 | 19:44,058,808 | G/A | — | uncertain significance |
| rs368911719 | 19:44,058,813 | G/A | — | likely benign |
| rs752224292 | 19:44,058,830 | C/G | — | uncertain significance |
| rs777365561 | 19:44,058,832 | C/T | — | uncertain significance |
| rs143881845 | 19:44,058,860 | G/A | — | uncertain significance |
| rs2228487 | 19:44,058,892 | C/T | — | likely benign |
| rs950862209 | 19:44,058,914 | G/A | — | uncertain significance |
| rs200376594 | 19:44,058,921 | G/A | — | likely benign |
| rs1375161272 | 19:44,058,926 | G/A | — | uncertain significance |
| rs200146769 | 19:44,058,928 | G/T | — | uncertain significance |
| rs2854501 | 19:44,060,001 | A/T | — | — |
| rs3213344 | 19:44,060,653 | G/A | — | — |
| rs3213337 | 19:44,061,937 | T/C | — | — |
| rs3213332 | 19:44,062,687 | G/T | — | — |
| rs538615794 | 19:44,063,431 | C/T | — | — |
| rs537349194 | 19:44,063,484 | A/C | — | — |
| rs56412564 | 19:44,064,325 | G/A | downstream gene variant | — |
| rs915337645 | 19:44,065,063 | T/C | — | uncertain significance |
| rs775135180 | 19:44,065,066 | T/C | — | uncertain significance |
| rs41558313 | 19:44,065,083 | G/A | — | benign |
| rs537236859 | 19:44,065,100 | C/A | — | uncertain significance |
| rs25496 | 19:44,065,102 | A/G | — | benign |
| rs199589749 | 19:44,065,115 | C/T | — | likely benign |
| rs2307174 | 19:44,065,167 | C/T | — | likely benign |
| rs577763111 | 19:44,066,400 | T/G | — | — |
| rs2021092 | 19:44,068,706 | T/C | intron variant | — |
| rs12611088 | 19:44,072,802 | G/A | intron variant | — |
| rs2854509 | 19:44,074,597 | T/A | — | — |
| rs3213255 | 19:44,077,507 | G/A | upstream gene variant | — |
| rs2307186 | 19:44,079,591 | C/A | — | likely benign |
| rs2307187 | 19:44,079,611 | G/A | — | benign |
| rs3213245 | 19:44,079,687 | G/T | coding sequence variant | — |
| rs193020817 | 19:44,081,285 | C/A | upstream gene variant | — |
| rs2682585 | 19:44,081,288 | A/C | — | — |
| rs112027591 | 19:44,081,452 | G/A | upstream gene variant | — |
| rs113779893 | 19:44,081,676 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.