NLRP8
NLR family pyrin domain containing 8
Summary
This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199475832 | 19:56,459,063 | G/A | — | not provided |
| rs1600292988 | 19:56,459,294 | A/G | — | uncertain significance |
| rs77942970 | 19:56,459,302 | A/C | — | likely benign |
| rs767885190 | 19:56,459,315 | C/T | — | uncertain significance |
| rs770699964 | 19:56,459,355 | C/G | — | uncertain significance |
| rs556133344 | 19:56,459,389 | G/T | — | uncertain significance |
| rs957265503 | 19:56,459,392 | A/G | — | uncertain significance |
| rs61738689 | 19:56,459,410 | G/A | — | likely benign |
| rs145268550 | 19:56,459,432 | G/A | — | uncertain significance |
| rs745631905 | 19:56,459,434 | T/G | — | uncertain significance |
| rs374619959 | 19:56,459,539 | C/T | — | uncertain significance |
| rs149738419 | 19:56,459,540 | G/A | — | uncertain significance |
| rs199475833 | 19:56,459,552 | G/A | — | uncertain significance |
| rs1978940739 | 19:56,459,623 | A/G | — | uncertain significance |
| rs199475834 | 19:56,463,707 | C/A | — | not provided |
| rs199475835 | 19:56,463,857 | C/T | — | not provided |
| rs1351711703 | 19:56,465,977 | C/T | — | uncertain significance |
| rs148518241 | 19:56,466,133 | C/T | — | uncertain significance |
| rs142225833 | 19:56,466,134 | G/A | — | uncertain significance |
| rs544368279 | 19:56,466,259 | G/A | — | uncertain significance |
| rs199475836 | 19:56,466,274 | C/T | — | uncertain significance |
| rs143237796 | 19:56,466,346 | C/G | — | uncertain significance |
| rs145359925 | 19:56,466,392 | C/T | — | uncertain significance |
| rs2514380712 | 19:56,466,403 | G/C | — | uncertain significance |
| rs1326436908 | 19:56,466,416 | T/C | — | uncertain significance |
| rs1979273815 | 19:56,466,419 | T/A | — | uncertain significance |
| rs929649077 | 19:56,466,424 | A/G | — | uncertain significance |
| rs199475837 | 19:56,466,437 | C/T | — | not provided |
| rs773936941 | 19:56,466,459 | G/T | — | uncertain significance |
| rs201042186 | 19:56,466,631 | T/C | — | uncertain significance |
| rs942644063 | 19:56,466,677 | A/G | — | uncertain significance |
| rs1979300934 | 19:56,466,804 | C/G | — | likely benign |
| rs2514381644 | 19:56,466,838 | G/A | — | uncertain significance |
| rs2514381771 | 19:56,466,896 | G/A | — | uncertain significance |
| rs374476572 | 19:56,466,899 | T/G | — | uncertain significance |
| rs771207728 | 19:56,466,904 | C/T | — | uncertain significance |
| rs755334461 | 19:56,466,968 | C/T | — | uncertain significance |
| rs372284254 | 19:56,467,043 | G/A | — | uncertain significance |
| rs41391053 | 19:56,467,052 | C/T | — | benign |
| rs151156945 | 19:56,467,076 | A/C | — | uncertain significance |
| rs897678832 | 19:56,467,091 | G/A | — | uncertain significance |
| rs1846881816 | 19:56,467,175 | A/C | — | uncertain significance |
| rs781208847 | 19:56,467,294 | C/A | — | uncertain significance |
| rs776827139 | 19:56,467,406 | C/T | — | uncertain significance |
| rs199475838 | 19:56,473,430 | T/C | — | not provided |
| rs1371725562 | 19:56,473,438 | C/G | — | uncertain significance |
| rs763731593 | 19:56,473,456 | A/G | — | uncertain significance |
| rs1406268450 | 19:56,473,462 | G/T | — | uncertain significance |
| rs767327279 | 19:56,473,528 | G/A | — | uncertain significance |
| rs369510323 | 19:56,473,557 | C/T | — | uncertain significance |
| rs199475840 | 19:56,473,560 | G/T | — | uncertain significance |
| rs199475841 | 19:56,477,522 | A/C | — | not provided |
| rs199475842 | 19:56,477,697 | C/A | — | not provided |
| rs374786327 | 19:56,477,719 | C/T | — | uncertain significance |
| rs376081039 | 19:56,477,725 | G/A | — | likely benign |
| rs765429558 | 19:56,481,974 | G/A | — | likely benign |
| rs199475843 | 19:56,482,066 | A/T | — | not provided |
| rs182237860 | 19:56,485,114 | C/T | — | likely benign |
| rs199832026 | 19:56,485,115 | G/T | — | uncertain significance |
| rs150726074 | 19:56,485,158 | C/T | — | uncertain significance |
| rs199475844 | 19:56,485,326 | A/G | — | not provided |
| rs199475845 | 19:56,487,446 | T/C | — | not provided |
| rs2514402499 | 19:56,487,501 | T/G | — | uncertain significance |
| rs755953973 | 19:56,487,506 | A/C | — | uncertain significance |
| rs779772671 | 19:56,487,508 | G/C | — | uncertain significance |
| rs2514402567 | 19:56,487,535 | G/C | — | uncertain significance |
| rs61734100 | 19:56,487,619 | C/G | missense variant | — |
| rs199854111 | 19:56,487,626 | T/C | — | uncertain significance |
| rs371443887 | 19:56,487,636 | T/C | — | uncertain significance |
| rs996461676 | 19:56,487,643 | C/A | — | uncertain significance |
| rs571690226 | 19:56,490,816 | G/A | — | uncertain significance |
| rs202123719 | 19:56,490,835 | A/T | — | uncertain significance |
| rs16986856 | 19:56,497,960 | C/A | intron variant | — |
| rs745986469 | 19:56,499,243 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.