AP5Z1
adaptor related protein complex 5 subunit zeta 1
Summary
This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
Known Variants914 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113403836 | 7:4,815,048 | G/A | — | benign |
| rs531357045 | 7:4,815,067 | C/A | — | likely benign |
| rs141680616 | 7:4,815,132 | G/A | — | benign |
| rs35684868 | 7:4,815,135 | A/C | — | benign |
| rs144712975 | 7:4,815,163 | T/G | — | benign |
| rs546354621 | 7:4,815,279 | G/T | — | uncertain significance |
| rs1049028734 | 7:4,815,321 | C/T | — | uncertain significance |
| rs142983676 | 7:4,815,344 | G/A | — | likely benign |
| rs146143723 | 7:4,815,346 | G/C | — | likely benign |
| rs201971666 | 7:4,815,354 | C/T | — | uncertain significance |
| rs1583222163 | 7:4,815,368 | A/C | — | uncertain significance |
| rs369687933 | 7:4,815,379 | C/T | — | likely benign |
| rs1262433596 | 7:4,815,383 | G/C | — | uncertain significance |
| rs766449429 | 7:4,815,392 | G/T | — | uncertain significance |
| rs754014815 | 7:4,815,396 | G/A | — | likely benign |
| rs1037813031 | 7:4,815,402 | C/T | — | likely benign |
| rs139999461 | 7:4,815,403 | G/A | — | benign |
| rs779241456 | 7:4,815,406 | C/T | — | likely benign |
| rs3750015 | 7:4,815,528 | T/G | — | benign |
| rs3750014 | 7:4,815,603 | T/C | — | benign |
| rs73671920 | 7:4,815,619 | T/G | — | likely benign |
| rs114742032 | 7:4,815,672 | C/G | — | benign |
| rs17135115 | 7:4,820,581 | T/C | — | benign |
| rs61215980 | 7:4,820,660 | C/T | — | likely benign |
| rs55987280 | 7:4,820,662 | A/T | — | likely benign |
| rs143180624 | 7:4,820,729 | C/T | — | likely benign |
| rs1469934561 | 7:4,820,806 | G/A | — | uncertain significance |
| rs765332596 | 7:4,820,813 | C/T | — | pathogenic |
| rs752985436 | 7:4,820,818 | C/T | — | likely benign |
| rs548498106 | 7:4,820,819 | G/A | — | uncertain significance |
| rs752031110 | 7:4,820,821 | G/T | — | uncertain significance |
| rs781743376 | 7:4,820,823 | A/T | — | uncertain significance |
| rs745330699 | 7:4,820,826 | T/G | — | uncertain significance |
| rs1198188652 | 7:4,820,831 | A/T | — | pathogenic |
| rs768361738 | 7:4,820,844 | G/A | — | uncertain significance |
| rs747982584 | 7:4,820,847 | T/A | — | uncertain significance |
| rs2534030464 | 7:4,820,862 | A/G | — | uncertain significance |
| rs752281685 | 7:4,820,871 | A/G | — | uncertain significance |
| rs527642993 | 7:4,820,881 | G/A | — | conflicting classifications of pathogenicity |
| rs374592930 | 7:4,820,884 | C/T | — | likely benign |
| rs146682319 | 7:4,820,890 | C/T | — | conflicting classifications of pathogenicity |
| rs370859268 | 7:4,820,891 | G/A | — | uncertain significance |
| rs770836286 | 7:4,820,914 | C/T | — | likely benign |
| rs774738874 | 7:4,820,922 | C/A | — | pathogenic |
| rs182694738 | 7:4,820,928 | C/T | — | uncertain significance |
| rs750818039 | 7:4,820,935 | C/T | — | conflicting classifications of pathogenicity |
| rs756631068 | 7:4,820,936 | A/G | — | uncertain significance |
| rs200423282 | 7:4,820,940 | G/A | — | uncertain significance |
| rs1186699852 | 7:4,820,944 | G/T | — | likely pathogenic |
| rs1255257676 | 7:4,820,946 | G/A | — | uncertain significance |
| rs749007746 | 7:4,820,958 | G/A | — | likely benign |
| rs145399025 | 7:4,821,056 | T/G | — | likely benign |
| rs114430021 | 7:4,821,171 | C/T | — | likely benign |
| rs772306348 | 7:4,821,180 | C/T | — | likely benign |
| rs761046762 | 7:4,821,183 | G/A | — | likely benign |
| rs529887558 | 7:4,821,190 | G/A | — | likely benign |
| rs1481553557 | 7:4,821,196 | C/T | — | uncertain significance |
| rs376335137 | 7:4,821,214 | C/G | — | uncertain significance |
| rs369340724 | 7:4,821,215 | G/A | — | uncertain significance |
| rs757047764 | 7:4,821,219 | A/T | — | uncertain significance |
| rs2115103040 | 7:4,821,228 | A/T | — | uncertain significance |
| rs767417376 | 7:4,821,229 | G/A | — | likely benign |
| rs560439547 | 7:4,821,238 | C/T | — | likely benign |
| rs748218884 | 7:4,821,239 | G/A | — | uncertain significance |
| rs199577559 | 7:4,821,257 | G/A | — | uncertain significance |
| rs369050534 | 7:4,821,277 | C/T | — | likely benign |
| rs775883752 | 7:4,821,278 | G/A | — | conflicting classifications of pathogenicity |
| rs773979533 | 7:4,821,281 | G/A | — | uncertain significance |
| rs767325342 | 7:4,821,290 | C/T | — | likely pathogenic |
| rs750211507 | 7:4,821,291 | G/A | — | uncertain significance |
| rs11549839 | 7:4,821,300 | C/G | — | likely benign |
| rs201836482 | 7:4,821,302 | C/T | — | uncertain significance |
| rs547606175 | 7:4,821,318 | G/A | — | uncertain significance |
| rs1781386835 | 7:4,821,321 | T/C | — | uncertain significance |
| rs200490093 | 7:4,821,332 | C/T | — | uncertain significance |
| rs566001734 | 7:4,821,336 | C/T | — | uncertain significance |
| rs769266009 | 7:4,821,337 | G/A | — | likely benign |
| rs1307463422 | 7:4,821,343 | C/T | — | likely benign |
| rs773974454 | 7:4,821,346 | C/T | — | likely benign |
| rs761446953 | 7:4,821,347 | C/T | — | uncertain significance |
| rs201481802 | 7:4,821,348 | G/A | — | uncertain significance |
| rs11549840 | 7:4,821,352 | G/C | — | likely benign |
| rs760484894 | 7:4,821,362 | G/C | — | uncertain significance |
| rs753730544 | 7:4,821,367 | C/T | — | likely benign |
| rs374912181 | 7:4,821,370 | C/T | — | conflicting classifications of pathogenicity |
| rs765261590 | 7:4,821,371 | G/A | — | uncertain significance |
| rs751601075 | 7:4,821,374 | C/G | — | uncertain significance |
| rs1181668776 | 7:4,821,380 | G/A | — | uncertain significance |
| rs750649378 | 7:4,821,381 | C/T | — | uncertain significance |
| rs776790989 | 7:4,821,389 | G/A | — | uncertain significance |
| rs143800095 | 7:4,821,390 | C/T | — | conflicting classifications of pathogenicity |
| rs374673755 | 7:4,821,394 | G/A | — | likely benign |
| rs368558554 | 7:4,821,404 | C/T | — | likely benign |
| rs76826075 | 7:4,821,555 | G/A | — | benign |
| rs115809720 | 7:4,821,627 | C/G | — | benign |
| rs116494599 | 7:4,822,637 | C/G | — | benign |
| rs139135247 | 7:4,822,642 | C/T | — | benign |
| rs79764270 | 7:4,822,778 | G/C | — | benign |
| rs77086996 | 7:4,822,887 | T/C | — | benign |
| rs1583230057 | 7:4,822,940 | T/C | — | likely benign |
Showing 100 of 914 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.