PPP6R2
protein phosphatase 6 regulatory subunit 2
Summary
The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148389704 | 22:50,774,374 | A/G | intergenic variant | — |
| rs565208978 | 22:50,778,208 | T/C | — | — |
| rs181391957 | 22:50,789,996 | A/G | intron variant | — |
| rs117865134 | 22:50,818,084 | G/C | intron variant | — |
| rs28705273 | 22:50,819,696 | T/C | intron variant | — |
| rs1185235290 | 22:50,832,524 | C/G | — | uncertain significance |
| rs56211323 | 22:50,835,954 | A/G | upstream gene variant | — |
| rs780346897 | 22:50,845,176 | C/G | — | uncertain significance |
| rs185445729 | 22:50,851,042 | G/A | regulatory region variant | — |
| rs1299710249 | 22:50,853,009 | A/G | — | uncertain significance |
| rs145732437 | 22:50,853,068 | C/T | — | uncertain significance |
| rs148527639 | 22:50,853,089 | C/T | — | uncertain significance |
| rs115621755 | 22:50,853,134 | C/A | — | — |
| rs12162782 | 22:50,853,626 | T/G | intron variant | — |
| rs767534916 | 22:50,857,361 | G/C | — | uncertain significance |
| rs150082460 | 22:50,857,824 | C/T | — | uncertain significance |
| rs761344015 | 22:50,860,747 | G/A | — | uncertain significance |
| rs148271691 | 22:50,861,913 | T/C | — | uncertain significance |
| rs2519197758 | 22:50,861,925 | A/T | — | uncertain significance |
| rs2519200133 | 22:50,861,964 | T/G | — | uncertain significance |
| rs754054138 | 22:50,861,987 | A/G | — | uncertain significance |
| rs556410526 | 22:50,869,735 | C/T | — | likely benign |
| rs917539200 | 22:50,869,752 | C/T | — | uncertain significance |
| rs148637820 | 22:50,869,761 | G/A | — | conflicting classifications of pathogenicity |
| rs376751493 | 22:50,869,782 | A/G | — | uncertain significance |
| rs753243094 | 22:50,869,800 | A/G | — | uncertain significance |
| rs145142446 | 22:50,871,165 | G/A | intron variant | — |
| rs371252278 | 22:50,871,750 | C/T | — | — |
| rs35760784 | 22:50,872,860 | C/T | — | likely benign |
| rs114588174 | 22:50,873,415 | G/A | — | likely benign |
| rs140951188 | 22:50,873,444 | G/A | — | uncertain significance |
| rs897499632 | 22:50,873,448 | A/G | — | uncertain significance |
| rs767638911 | 22:50,873,477 | C/A | — | uncertain significance |
| rs148076975 | 22:50,873,487 | C/T | — | uncertain significance |
| rs1375324098 | 22:50,873,498 | G/A | — | uncertain significance |
| rs5770859 | 22:50,873,761 | A/C | — | — |
| rs184198228 | 22:50,874,458 | C/T | intron variant | — |
| rs772647131 | 22:50,874,820 | G/A | — | uncertain significance |
| rs547342353 | 22:50,874,862 | G/A | — | uncertain significance |
| rs144758234 | 22:50,874,873 | G/A | — | likely benign |
| rs1248303898 | 22:50,875,487 | C/A | — | uncertain significance |
| rs745978569 | 22:50,875,938 | T/G | — | uncertain significance |
| rs768531757 | 22:50,875,939 | T/C | — | uncertain significance |
| rs146592285 | 22:50,876,021 | C/T | — | likely benign |
| rs959238994 | 22:50,876,291 | G/A | — | uncertain significance |
| rs187087458 | 22:50,876,513 | G/A | intron variant | — |
| rs1451253437 | 22:50,876,624 | G/A | — | uncertain significance |
| rs2520108110 | 22:50,876,687 | A/G | — | uncertain significance |
| rs146430890 | 22:50,876,692 | C/T | — | likely benign |
| rs779654460 | 22:50,876,703 | C/T | — | uncertain significance |
| rs200855171 | 22:50,876,708 | C/T | — | uncertain significance |
| rs1569494860 | 22:50,877,125 | C/A | — | uncertain significance |
| rs771551913 | 22:50,878,408 | G/C | — | uncertain significance |
| rs200173779 | 22:50,878,409 | T/A | — | uncertain significance |
| rs45484793 | 22:50,878,449 | G/A | — | likely benign |
| rs193920858 | 22:50,878,454 | C/T | — | uncertain significance |
| rs778627051 | 22:50,878,466 | C/T | — | uncertain significance |
| rs12171249 | 22:50,878,927 | G/A | downstream gene variant | — |
| rs368128232 | 22:50,879,253 | A/C | — | uncertain significance |
| rs749687321 | 22:50,879,256 | C/A | — | uncertain significance |
| rs181944432 | 22:50,879,257 | C/T | — | uncertain significance |
| rs758251940 | 22:50,879,319 | A/T | — | uncertain significance |
| rs149682499 | 22:50,879,326 | C/T | — | uncertain significance |
| rs749586712 | 22:50,879,350 | A/T | — | uncertain significance |
| rs199797747 | 22:50,879,354 | C/T | — | likely benign |
| rs148863369 | 22:50,879,364 | G/A | — | uncertain significance |
| rs372098989 | 22:50,879,384 | G/A | — | likely benign |
| rs2520365194 | 22:50,879,394 | G/A | — | likely benign |
| rs371052671 | 22:50,879,400 | G/A | — | likely benign |
| rs372426551 | 22:50,879,404 | G/A | — | likely benign |
| rs759377991 | 22:50,879,416 | C/T | — | uncertain significance |
| rs780408073 | 22:50,879,435 | G/C | — | uncertain significance |
| rs200415574 | 22:50,882,314 | C/T | — | uncertain significance |
| rs142237510 | 22:50,882,315 | G/A | — | uncertain significance |
| rs201985147 | 22:50,882,317 | C/A | — | uncertain significance |
| rs758287358 | 22:50,882,339 | C/T | — | uncertain significance |
| rs200787999 | 22:50,882,428 | G/A | — | uncertain significance |
| rs754278801 | 22:50,882,503 | G/A | — | uncertain significance |
| rs768944848 | 22:50,882,512 | A/G | — | uncertain significance |
| rs140182883 | 22:50,882,635 | G/C | — | uncertain significance |
| rs140137157 | 22:50,882,643 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.