PDE8B
phosphodiesterase 8B
Summary
The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
Known Variants270 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2928170 | 5:76,476,457 | C/T | — | — |
| rs2928169 | 5:76,476,580 | C/G | regulatory region variant | — |
| rs2928166 | 5:76,479,833 | T/A | — | — |
| rs6453294 | 5:76,488,655 | C/G | intergenic variant | — |
| rs77741622 | 5:76,491,857 | G/A | intergenic variant | — |
| rs1450863356 | 5:76,506,707 | C/T | — | uncertain significance |
| rs760305316 | 5:76,506,727 | C/T | — | uncertain significance |
| rs574193520 | 5:76,506,728 | G/T | — | benign |
| rs754321620 | 5:76,506,732 | G/T | — | uncertain significance |
| rs2149370583 | 5:76,506,754 | G/A | — | uncertain significance |
| rs1419104376 | 5:76,506,761 | C/T | — | uncertain significance |
| rs1176143656 | 5:76,506,769 | A/T | — | uncertain significance |
| rs2531978454 | 5:76,506,771 | C/A | — | likely benign |
| rs886060753 | 5:76,506,802 | C/A | — | uncertain significance |
| rs201411330 | 5:76,506,813 | C/A | — | uncertain significance |
| rs2531980158 | 5:76,506,820 | A/G | — | uncertain significance |
| rs2531980289 | 5:76,506,823 | T/G | — | uncertain significance |
| rs888380498 | 5:76,506,828 | C/A | — | likely benign |
| rs758801937 | 5:76,506,834 | G/A | — | likely benign |
| rs751727642 | 5:76,506,837 | C/T | — | likely benign |
| rs781263902 | 5:76,506,844 | G/A | — | uncertain significance |
| rs2149371468 | 5:76,506,845 | T/C | — | pathogenic |
| rs1748192964 | 5:76,506,857 | C/G | — | uncertain significance |
| rs886060754 | 5:76,506,875 | G/C | — | uncertain significance |
| rs2531982356 | 5:76,506,879 | C/T | — | likely benign |
| rs748130788 | 5:76,506,893 | A/T | — | uncertain significance |
| rs886060755 | 5:76,506,906 | C/T | — | conflicting classifications of pathogenicity |
| rs775097972 | 5:76,506,919 | C/G | — | uncertain significance |
| rs970463499 | 5:76,506,931 | C/A | — | uncertain significance |
| rs2531984853 | 5:76,506,933 | C/G | — | likely benign |
| rs980063460 | 5:76,506,943 | G/C | — | uncertain significance |
| rs2531985791 | 5:76,506,955 | A/G | — | uncertain significance |
| rs1381871102 | 5:76,506,958 | G/T | — | uncertain significance |
| rs764380392 | 5:76,506,961 | C/T | — | uncertain significance |
| rs1326877938 | 5:76,506,968 | A/C | — | uncertain significance |
| rs2531986670 | 5:76,506,974 | G/A | — | uncertain significance |
| rs762015029 | 5:76,506,979 | G/A | — | uncertain significance |
| rs561890042 | 5:76,506,997 | G/C | — | conflicting classifications of pathogenicity |
| rs758415005 | 5:76,507,006 | G/A | — | uncertain significance |
| rs1748279688 | 5:76,507,027 | C/G | — | uncertain significance |
| rs886060756 | 5:76,507,030 | A/G | — | uncertain significance |
| rs878853158 | 5:76,507,054 | G/T | stop gained | pathogenic |
| rs374248560 | 5:76,507,056 | G/A | — | likely benign |
| rs900830973 | 5:76,507,076 | A/G | — | uncertain significance |
| rs750567358 | 5:76,507,079 | C/T | — | uncertain significance |
| rs2531989929 | 5:76,507,084 | G/A | — | uncertain significance |
| rs754040283 | 5:76,507,097 | C/A | — | conflicting classifications of pathogenicity |
| rs764174475 | 5:76,507,104 | C/G | — | likely benign |
| rs4704397 | 5:76,518,442 | G/A | intron variant | — |
| rs1479567 | 5:76,528,022 | G/C | — | — |
| rs144491139 | 5:76,529,168 | A/G | — | — |
| rs6885099 | 5:76,530,349 | A/C | — | — |
| rs10213867 | 5:76,533,530 | G/T | — | — |
| rs34414970 | 5:76,534,038 | T/G | intron variant | — |
| rs2046045 | 5:76,535,811 | T/G | intron variant | — |
| rs7727976 | 5:76,543,209 | A/T | intron variant | — |
| rs10036386 | 5:76,543,603 | C/A | — | — |
| rs7729842 | 5:76,547,212 | C/T | — | benign |
| rs1479595 | 5:76,552,849 | T/C | — | — |
| rs7702192 | 5:76,554,807 | C/A | intron variant | — |
| rs7714529 | 5:76,562,245 | G/C | — | — |
| rs251421 | 5:76,572,970 | A/G | intron variant | — |
| rs150431497 | 5:76,591,451 | A/G | downstream gene variant | — |
| rs12514694 | 5:76,591,698 | G/A | downstream gene variant | — |
| rs10066802 | 5:76,597,461 | G/C | — | — |
| rs35689253 | 5:76,597,887 | G/A | intron variant | — |
| rs553238971 | 5:76,604,171 | A/C | — | — |
| rs776831488 | 5:76,607,833 | G/A | — | likely benign |
| rs115599001 | 5:76,607,841 | A/G | — | benign |
| rs779728266 | 5:76,607,863 | G/A | — | likely benign |
| rs527558306 | 5:76,607,882 | C/T | — | uncertain significance |
| rs929487171 | 5:76,621,345 | C/T | — | likely benign |
| rs201875450 | 5:76,621,357 | G/T | — | likely benign |
| rs76299136 | 5:76,621,399 | C/G | — | uncertain significance |
| rs766099448 | 5:76,621,429 | T/C | — | likely benign |
| rs535530044 | 5:76,621,451 | C/T | — | uncertain significance |
| rs764991398 | 5:76,621,461 | A/C | — | uncertain significance |
| rs2530789575 | 5:76,621,499 | A/C | — | uncertain significance |
| rs971647 | 5:76,621,516 | T/C | — | benign |
| rs770115784 | 5:76,621,534 | C/T | — | uncertain significance |
| rs200873122 | 5:76,621,535 | G/A | — | uncertain significance |
| rs2530790716 | 5:76,621,538 | G/A | — | uncertain significance |
| rs200516880 | 5:76,624,816 | A/G | — | likely benign |
| rs377536938 | 5:76,624,825 | C/T | — | conflicting classifications of pathogenicity |
| rs2530843852 | 5:76,624,833 | G/T | — | uncertain significance |
| rs370696702 | 5:76,624,847 | C/T | — | likely benign |
| rs754217682 | 5:76,624,879 | G/A | — | likely benign |
| rs372062422 | 5:76,624,895 | C/T | — | likely benign |
| rs562435179 | 5:76,627,229 | C/T | — | uncertain significance |
| rs150153853 | 5:76,627,230 | G/A | — | likely benign |
| rs367567022 | 5:76,627,237 | C/T | — | uncertain significance |
| rs751644730 | 5:76,627,247 | C/T | — | uncertain significance |
| rs138641918 | 5:76,627,248 | G/A | — | likely benign |
| rs768520879 | 5:76,627,270 | G/T | — | uncertain significance |
| rs6887019 | 5:76,630,789 | T/C | intron variant | — |
| rs748005965 | 5:76,633,079 | G/T | — | uncertain significance |
| rs552915542 | 5:76,633,107 | A/C | — | uncertain significance |
| rs771818778 | 5:76,633,126 | C/T | — | likely benign |
| rs375768747 | 5:76,633,139 | C/T | — | conflicting classifications of pathogenicity |
| rs368873268 | 5:76,640,665 | T/C | — | benign |
Showing 100 of 270 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.