PKD1L2
polycystin 1 like 2 (gene/pseudogene)
Summary
This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]
Known Variants214 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4888124 | 16:81,143,961 | A/T | coding sequence variant | — |
| rs8059153 | 16:81,145,675 | T/C | coding sequence variant | — |
| rs4889240 | 16:81,156,522 | T/C | intron variant | — |
| rs200839960 | 16:81,157,321 | G/C | — | likely pathogenic |
| rs200291127 | 16:81,164,066 | G/T | — | uncertain significance |
| rs371475280 | 16:81,164,105 | G/A | — | uncertain significance |
| rs761468936 | 16:81,164,196 | G/A | — | uncertain significance |
| rs1375805387 | 16:81,164,220 | G/T | — | uncertain significance |
| rs374977724 | 16:81,164,226 | G/C | — | uncertain significance |
| rs200411900 | 16:81,167,213 | G/T | — | uncertain significance |
| rs368524278 | 16:81,167,231 | C/T | — | uncertain significance |
| rs2507861155 | 16:81,167,251 | G/A | — | uncertain significance |
| rs758358335 | 16:81,167,258 | A/G | — | uncertain significance |
| rs751061291 | 16:81,167,265 | C/A | — | uncertain significance |
| rs372071366 | 16:81,167,268 | G/T | — | likely benign |
| rs141686321 | 16:81,168,423 | T/C | regulatory region variant | — |
| rs1349349453 | 16:81,171,063 | G/C | — | uncertain significance |
| rs1974126949 | 16:81,171,084 | C/T | — | uncertain significance |
| rs371765077 | 16:81,171,126 | C/G | — | uncertain significance |
| rs1346460572 | 16:81,173,121 | G/A | — | uncertain significance |
| rs1024386916 | 16:81,173,141 | T/C | — | uncertain significance |
| rs754369209 | 16:81,173,154 | C/T | — | uncertain significance |
| rs1410742395 | 16:81,173,158 | C/T | — | likely benign |
| rs752807684 | 16:81,173,188 | C/A | — | uncertain significance |
| rs1455139816 | 16:81,173,202 | G/T | — | uncertain significance |
| rs1171377467 | 16:81,173,204 | C/T | — | uncertain significance |
| rs753706671 | 16:81,174,911 | G/T | — | uncertain significance |
| rs2151836286 | 16:81,181,002 | C/T | — | uncertain significance |
| rs2507915033 | 16:81,181,005 | C/A | — | uncertain significance |
| rs1236632598 | 16:81,181,014 | A/C | — | uncertain significance |
| rs113696594 | 16:81,181,065 | C/G | — | uncertain significance |
| rs1169076182 | 16:81,181,085 | G/C | — | uncertain significance |
| rs369852873 | 16:81,181,104 | C/T | — | uncertain significance |
| rs753737969 | 16:81,181,764 | G/A | — | uncertain significance |
| rs375300640 | 16:81,181,806 | T/A | — | uncertain significance |
| rs754288663 | 16:81,181,842 | T/C | — | uncertain significance |
| rs755420751 | 16:81,181,843 | C/T | — | uncertain significance |
| rs267604655 | 16:81,181,854 | C/T | — | uncertain significance |
| rs914383503 | 16:81,181,858 | G/A | — | uncertain significance |
| rs541445896 | 16:81,181,956 | A/G | — | uncertain significance |
| rs530367231 | 16:81,183,339 | A/G | — | uncertain significance |
| rs373239644 | 16:81,183,341 | C/T | — | uncertain significance |
| rs377031590 | 16:81,183,402 | C/T | — | uncertain significance |
| rs532131328 | 16:81,183,438 | G/A | — | uncertain significance |
| rs749895726 | 16:81,183,446 | G/C | — | uncertain significance |
| rs2507925448 | 16:81,183,456 | T/A | — | uncertain significance |
| rs371817165 | 16:81,183,469 | C/T | — | likely benign |
| rs188010999 | 16:81,183,492 | T/G | — | uncertain significance |
| rs377594407 | 16:81,185,396 | G/A | — | uncertain significance |
| rs914503583 | 16:81,185,424 | C/T | — | uncertain significance |
| rs924583496 | 16:81,185,466 | A/G | — | uncertain significance |
| rs527688440 | 16:81,185,477 | C/T | — | likely benign |
| rs374254873 | 16:81,185,478 | G/C | — | uncertain significance |
| rs184024457 | 16:81,185,514 | C/T | — | uncertain significance |
| rs769979605 | 16:81,187,575 | C/T | — | likely benign |
| rs1056512492 | 16:81,187,579 | C/G | — | uncertain significance |
| rs778461537 | 16:81,187,611 | C/T | — | likely benign |
| rs371881756 | 16:81,187,708 | C/T | — | uncertain significance |
| rs1403401735 | 16:81,187,844 | T/C | — | uncertain significance |
| rs779123207 | 16:81,187,846 | G/A | — | uncertain significance |
| rs758845127 | 16:81,187,918 | T/C | — | uncertain significance |
| rs1270446763 | 16:81,187,943 | C/T | — | uncertain significance |
| rs765026788 | 16:81,190,486 | T/C | — | uncertain significance |
| rs375813573 | 16:81,190,514 | C/T | — | uncertain significance |
| rs1974950932 | 16:81,190,520 | C/A | — | uncertain significance |
| rs769526533 | 16:81,190,547 | C/T | — | uncertain significance |
| rs200559888 | 16:81,190,634 | C/T | — | uncertain significance |
| rs760969076 | 16:81,190,649 | G/A | — | uncertain significance |
| rs368944038 | 16:81,190,685 | G/A | — | uncertain significance |
| rs1188329542 | 16:81,190,694 | C/T | — | uncertain significance |
| rs79809507 | 16:81,193,237 | C/G | — | uncertain significance |
| rs1441248955 | 16:81,193,278 | C/T | — | uncertain significance |
| rs371035139 | 16:81,193,308 | G/A | — | uncertain significance |
| rs2507971454 | 16:81,193,356 | G/A | — | uncertain significance |
| rs181469891 | 16:81,193,378 | C/T | — | uncertain significance |
| rs779485188 | 16:81,193,393 | G/C | — | likely benign |
| rs201691612 | 16:81,193,410 | G/A | — | uncertain significance |
| rs374257336 | 16:81,194,320 | G/T | — | uncertain significance |
| rs199839389 | 16:81,194,324 | C/T | — | uncertain significance |
| rs370837055 | 16:81,194,338 | T/C | — | uncertain significance |
| rs372900229 | 16:81,194,347 | T/C | — | uncertain significance |
| rs942151718 | 16:81,194,377 | A/G | — | uncertain significance |
| rs79632513 | 16:81,194,378 | T/C | — | uncertain significance |
| rs139345009 | 16:81,194,383 | G/A | — | uncertain significance |
| rs769372805 | 16:81,194,397 | C/A | — | uncertain significance |
| rs1015294694 | 16:81,194,497 | C/T | — | uncertain significance |
| rs374473438 | 16:81,194,498 | G/A | — | uncertain significance |
| rs781662724 | 16:81,197,207 | C/T | — | uncertain significance |
| rs200881421 | 16:81,197,216 | C/G | — | uncertain significance |
| rs1277938655 | 16:81,197,245 | C/T | — | uncertain significance |
| rs200120814 | 16:81,197,248 | C/T | — | uncertain significance |
| rs764793441 | 16:81,197,263 | C/T | — | uncertain significance |
| rs766159547 | 16:81,197,333 | T/C | — | uncertain significance |
| rs941724752 | 16:81,198,252 | T/C | — | uncertain significance |
| rs1443075068 | 16:81,198,280 | A/G | — | uncertain significance |
| rs1304634255 | 16:81,198,290 | G/C | — | uncertain significance |
| rs369182656 | 16:81,198,347 | A/G | — | uncertain significance |
| rs1054091831 | 16:81,199,451 | T/A | — | uncertain significance |
| rs12597040 | 16:81,199,555 | A/G | — | benign |
| rs1326733094 | 16:81,201,530 | G/C | — | uncertain significance |
Showing 100 of 214 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.