ATR
ATR checkpoint kinase
Summary
The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]
Known Variants2,982 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10935463 | 3:142,167,976 | A/G | — | benign |
| rs532662296 | 3:142,168,169 | G/A | — | uncertain significance |
| rs750327573 | 3:142,168,199 | A/C | — | uncertain significance |
| rs2473008496 | 3:142,168,275 | A/G | — | uncertain significance |
| rs760382979 | 3:142,168,280 | T/C | — | likely benign |
| rs2070728554 | 3:142,168,282 | G/C | — | uncertain significance |
| rs2070728724 | 3:142,168,284 | G/A | — | uncertain significance |
| rs2473008585 | 3:142,168,293 | A/G | — | uncertain significance |
| rs2473008592 | 3:142,168,294 | G/A | — | uncertain significance |
| rs2473008619 | 3:142,168,300 | T/A | — | uncertain significance |
| rs553715098 | 3:142,168,304 | G/A | — | likely benign |
| rs2473008658 | 3:142,168,306 | A/C | — | uncertain significance |
| rs147649584 | 3:142,168,307 | T/C | — | likely benign |
| rs1489068438 | 3:142,168,310 | T/A | — | uncertain significance |
| rs761237321 | 3:142,168,312 | A/C | — | uncertain significance |
| rs2070730666 | 3:142,168,313 | G/C | — | uncertain significance |
| rs750316781 | 3:142,168,316 | T/C | — | likely benign |
| rs758432141 | 3:142,168,321 | C/T | — | uncertain significance |
| rs2473008791 | 3:142,168,322 | A/G | — | likely benign |
| rs1802904 | 3:142,168,331 | C/T | synonymous variant | likely benign |
| rs374127772 | 3:142,168,342 | A/G | — | uncertain significance |
| rs2108242260 | 3:142,168,343 | A/G | — | likely benign |
| rs2473008888 | 3:142,168,345 | G/A | — | uncertain significance |
| rs2108242274 | 3:142,168,347 | A/G | — | uncertain significance |
| rs781420658 | 3:142,168,348 | C/T | — | uncertain significance |
| rs368061331 | 3:142,168,349 | A/G | — | likely benign |
| rs371176601 | 3:142,168,367 | C/T | — | likely benign |
| rs2473008969 | 3:142,168,370 | C/T | — | likely benign |
| rs2473009011 | 3:142,168,377 | G/C | — | uncertain significance |
| rs1349108610 | 3:142,168,383 | C/T | — | uncertain significance |
| rs2473009066 | 3:142,168,388 | T/A | — | likely benign |
| rs199948706 | 3:142,168,389 | C/T | — | conflicting classifications of pathogenicity |
| rs749753899 | 3:142,168,390 | G/A | stop gained | — |
| rs771519566 | 3:142,168,395 | T/C | — | uncertain significance |
| rs2473009121 | 3:142,168,398 | A/G | — | uncertain significance |
| rs2070733957 | 3:142,168,404 | C/T | — | uncertain significance |
| rs746266532 | 3:142,168,406 | T/C | — | likely benign |
| rs1314855850 | 3:142,168,413 | C/A | — | uncertain significance |
| rs2070734519 | 3:142,168,414 | G/A | — | uncertain significance |
| rs2108242609 | 3:142,168,415 | C/T | — | likely benign |
| rs768358025 | 3:142,168,420 | C/T | — | uncertain significance |
| rs2473009250 | 3:142,168,422 | A/G | — | uncertain significance |
| rs2108242641 | 3:142,168,424 | G/A | — | likely benign |
| rs1227410272 | 3:142,168,426 | C/G | — | uncertain significance |
| rs887271779 | 3:142,168,433 | A/G | — | likely benign |
| rs2070735243 | 3:142,168,435 | G/A | — | uncertain significance |
| rs1408082351 | 3:142,168,436 | G/A | — | likely benign |
| rs2070735565 | 3:142,168,437 | G/A | — | uncertain significance |
| rs761588508 | 3:142,168,446 | T/G | — | uncertain significance |
| rs762775653 | 3:142,168,460 | A/G | — | likely benign |
| rs2070737278 | 3:142,168,462 | A/G | — | likely benign |
| rs7652760 | 3:142,168,618 | T/C | — | benign |
| rs552872123 | 3:142,168,652 | A/G | — | likely benign |
| rs577916091 | 3:142,168,653 | C/A | — | likely benign |
| rs869312484 | 3:142,168,883 | A/G | — | likely benign |
| rs869312486 | 3:142,169,168 | G/A | — | likely benign |
| rs9828178 | 3:142,171,303 | A/G | upstream gene variant | — |
| rs11717703 | 3:142,171,595 | A/G | — | likely benign |
| rs74385971 | 3:142,171,691 | A/T | — | likely benign |
| rs1577488520 | 3:142,171,968 | A/G | — | likely pathogenic |
| rs1408393470 | 3:142,171,971 | T/A | — | uncertain significance |
| rs2473023181 | 3:142,171,979 | G/A | — | likely benign |
| rs2070829207 | 3:142,171,983 | A/G | — | uncertain significance |
| rs2473023228 | 3:142,171,985 | T/C | — | likely benign |
| rs2473023236 | 3:142,171,988 | T/C | — | likely benign |
| rs2473023251 | 3:142,171,991 | A/G | — | likely benign |
| rs1440426009 | 3:142,171,997 | A/T | — | uncertain significance |
| rs1309520394 | 3:142,171,999 | T/A | — | uncertain significance |
| rs2070829616 | 3:142,172,002 | G/A | — | likely benign |
| rs764165509 | 3:142,172,003 | T/A | — | likely benign |
| rs911475726 | 3:142,172,005 | G/A | — | uncertain significance |
| rs587783340 | 3:142,172,006 | C/T | — | conflicting classifications of pathogenicity |
| rs762196224 | 3:142,172,007 | G/A | — | uncertain significance |
| rs2473023336 | 3:142,172,013 | G/A | — | uncertain significance |
| rs1335791203 | 3:142,172,021 | T/C | — | likely benign |
| rs2070830602 | 3:142,172,022 | T/C | — | uncertain significance |
| rs2473023363 | 3:142,172,024 | C/A | — | likely benign |
| rs2108249751 | 3:142,172,026 | C/T | — | uncertain significance |
| rs2473023381 | 3:142,172,029 | G/A | — | uncertain significance |
| rs1272166149 | 3:142,172,039 | T/A | — | uncertain significance |
| rs765380657 | 3:142,172,042 | C/T | — | uncertain significance |
| rs1206972227 | 3:142,172,055 | T/C | — | uncertain significance |
| rs2473023480 | 3:142,172,062 | A/G | — | uncertain significance |
| rs200490116 | 3:142,172,064 | G/C | — | conflicting classifications of pathogenicity |
| rs2108249792 | 3:142,172,066 | C/T | — | likely benign |
| rs2108249803 | 3:142,172,069 | T/C | — | likely benign |
| rs2473023519 | 3:142,172,072 | G/A | — | likely benign |
| rs1043401586 | 3:142,172,073 | A/T | — | uncertain significance |
| rs922541485 | 3:142,172,083 | T/G | — | likely benign |
| rs758923230 | 3:142,172,084 | G/T | — | likely benign |
| rs1553750561 | 3:142,172,088 | C/G | — | likely benign |
| rs7634495 | 3:142,172,410 | C/T | — | benign |
| rs74775064 | 3:142,176,277 | T/G | — | benign |
| rs2473032817 | 3:142,176,431 | A/T | — | likely benign |
| rs558955623 | 3:142,176,435 | T/G | — | likely benign |
| rs1254296505 | 3:142,176,462 | G/C | — | uncertain significance |
| rs2473032972 | 3:142,176,466 | A/G | — | likely benign |
| rs144427735 | 3:142,176,469 | A/T | — | likely benign |
| rs769121210 | 3:142,176,470 | C/T | — | uncertain significance |
| rs1193437141 | 3:142,176,471 | G/A | — | uncertain significance |
Showing 100 of 2,982 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.