ATRIP
ATR interacting protein
Summary
This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Known Variants228 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12497634 | 3:48,487,795 | G/C | — | benign |
| rs9881491 | 3:48,487,911 | G/A | — | benign |
| rs116253015 | 3:48,488,149 | C/G | — | benign |
| rs72622933 | 3:48,488,192 | G/C | — | benign |
| rs2529918615 | 3:48,488,271 | G/A | — | uncertain significance |
| rs1161307485 | 3:48,488,273 | C/G | — | likely benign |
| rs2529918645 | 3:48,488,274 | A/C | — | uncertain significance |
| rs769758692 | 3:48,488,275 | G/T | — | uncertain significance |
| rs2529918667 | 3:48,488,276 | C/G | — | uncertain significance |
| rs757688146 | 3:48,488,281 | G/A | — | conflicting classifications of pathogenicity |
| rs2039687871 | 3:48,488,283 | C/T | — | uncertain significance |
| rs1336567918 | 3:48,488,287 | G/A | — | uncertain significance |
| rs2529919091 | 3:48,488,314 | C/A | — | uncertain significance |
| rs1158724598 | 3:48,488,329 | G/A | — | uncertain significance |
| rs1203207297 | 3:48,488,330 | G/C | — | likely benign |
| rs530772573 | 3:48,488,334 | C/G | — | uncertain significance |
| rs368960700 | 3:48,488,360 | C/T | — | likely benign |
| rs547105412 | 3:48,488,376 | C/A | — | uncertain significance |
| rs2039693370 | 3:48,488,404 | A/G | — | uncertain significance |
| rs752960407 | 3:48,488,423 | C/A | — | uncertain significance |
| rs777683743 | 3:48,488,430 | G/A | — | uncertain significance |
| rs772976477 | 3:48,488,445 | C/T | — | uncertain significance |
| rs551289572 | 3:48,488,452 | C/T | — | uncertain significance |
| rs148174212 | 3:48,488,466 | C/T | — | uncertain significance |
| rs144998094 | 3:48,488,468 | A/G | — | likely benign |
| rs771487037 | 3:48,488,473 | C/G | — | uncertain significance |
| rs900301715 | 3:48,488,474 | G/A | — | likely benign |
| rs2039696862 | 3:48,488,484 | C/T | — | uncertain significance |
| rs767653932 | 3:48,488,489 | C/T | — | likely benign |
| rs1159319927 | 3:48,488,495 | C/T | — | conflicting classifications of pathogenicity |
| rs4858794 | 3:48,490,193 | G/C | downstream gene variant | — |
| rs182766845 | 3:48,491,425 | T/A | — | benign |
| rs1359226906 | 3:48,491,488 | C/T | — | uncertain significance |
| rs368911609 | 3:48,491,511 | G/A | — | uncertain significance |
| rs754491690 | 3:48,491,527 | A/T | — | uncertain significance |
| rs150341628 | 3:48,491,531 | C/T | — | likely benign |
| rs149518027 | 3:48,491,532 | G/A | — | uncertain significance |
| rs746308489 | 3:48,491,550 | G/A | — | uncertain significance |
| rs11925638 | 3:48,491,568 | A/C | — | benign |
| rs11922041 | 3:48,491,594 | T/C | — | benign |
| rs770160806 | 3:48,493,136 | T/C | — | uncertain significance |
| rs762807851 | 3:48,493,151 | A/G | — | uncertain significance |
| rs2529945866 | 3:48,493,196 | C/T | — | uncertain significance |
| rs150966664 | 3:48,493,209 | G/A | — | likely benign |
| rs752036149 | 3:48,493,215 | C/T | — | likely benign |
| rs748150512 | 3:48,493,219 | C/G | — | uncertain significance |
| rs1347404468 | 3:48,493,241 | A/G | — | uncertain significance |
| rs1205528744 | 3:48,493,246 | C/G | — | uncertain significance |
| rs150047731 | 3:48,493,268 | A/G | — | uncertain significance |
| rs368316197 | 3:48,493,271 | C/T | — | uncertain significance |
| rs141432992 | 3:48,493,275 | C/G | — | likely benign |
| rs2039903424 | 3:48,495,740 | A/C | — | uncertain significance |
| rs775286602 | 3:48,495,778 | C/T | — | uncertain significance |
| rs370096586 | 3:48,495,779 | G/A | — | uncertain significance |
| rs2039905608 | 3:48,495,791 | T/C | — | uncertain significance |
| rs146791702 | 3:48,495,801 | C/T | — | likely benign |
| rs7618883 | 3:48,498,456 | A/T | — | benign |
| rs2529969212 | 3:48,498,644 | G/A | — | likely benign |
| rs143699962 | 3:48,498,664 | G/A | — | uncertain significance |
| rs2529969384 | 3:48,498,666 | A/G | — | uncertain significance |
| rs758069598 | 3:48,498,675 | T/C | — | uncertain significance |
| rs768603105 | 3:48,498,691 | C/T | — | uncertain significance |
| rs2039977646 | 3:48,498,704 | T/C | — | conflicting classifications of pathogenicity |
| rs35240314 | 3:48,498,706 | C/T | — | benign |
| rs747622455 | 3:48,498,707 | A/G | — | likely benign |
| rs2039977936 | 3:48,498,713 | T/G | — | uncertain significance |
| rs1301434256 | 3:48,498,724 | C/T | — | uncertain significance |
| rs1575280112 | 3:48,498,731 | T/A | — | likely benign |
| rs1300418862 | 3:48,498,746 | T/C | — | likely benign |
| rs1297079892 | 3:48,498,749 | T/C | — | likely benign |
| rs764677203 | 3:48,498,753 | A/G | — | uncertain significance |
| rs2529970116 | 3:48,498,759 | T/C | — | uncertain significance |
| rs758676126 | 3:48,498,770 | C/A | — | uncertain significance |
| rs779664499 | 3:48,498,782 | G/A | — | uncertain significance |
| rs2107215447 | 3:48,498,818 | T/G | — | pathogenic |
| rs554411551 | 3:48,500,761 | G/C | — | uncertain significance |
| rs769085285 | 3:48,500,817 | T/G | — | uncertain significance |
| rs1329091951 | 3:48,500,866 | C/G | — | likely benign |
| rs2040049839 | 3:48,501,179 | T/C | — | likely benign |
| rs1300120862 | 3:48,501,180 | C/T | — | likely benign |
| rs750771551 | 3:48,501,194 | T/C | — | likely benign |
| rs2529984098 | 3:48,501,222 | T/C | — | uncertain significance |
| rs1465109756 | 3:48,501,254 | C/T | — | uncertain significance |
| rs1660968456 | 3:48,501,260 | A/C | — | uncertain significance |
| rs775618032 | 3:48,501,279 | C/T | — | uncertain significance |
| rs763853987 | 3:48,501,288 | C/A | — | uncertain significance |
| rs749929349 | 3:48,501,307 | G/A | — | likely benign |
| rs145979024 | 3:48,501,519 | G/A | — | conflicting classifications of pathogenicity |
| rs550209443 | 3:48,501,526 | C/T | — | uncertain significance |
| rs2529986260 | 3:48,501,537 | A/C | — | uncertain significance |
| rs1199059483 | 3:48,501,538 | C/G | — | uncertain significance |
| rs201840650 | 3:48,501,551 | T/C | — | likely benign |
| rs368490195 | 3:48,501,552 | G/A | — | uncertain significance |
| rs925406672 | 3:48,501,565 | C/G | — | uncertain significance |
| rs757661922 | 3:48,501,573 | G/A | — | uncertain significance |
| rs139437729 | 3:48,501,574 | C/T | — | uncertain significance |
| rs139858543 | 3:48,501,578 | G/A | — | likely benign |
| rs768737028 | 3:48,501,594 | C/T | — | likely benign |
| rs776950968 | 3:48,501,596 | G/C | — | likely benign |
| rs773221757 | 3:48,501,624 | C/T | — | uncertain significance |
Showing 100 of 228 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.