PDE4C
phosphodiesterase 4C
Summary
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150088794 | 19:18,321,757 | G/A | — | likely benign |
| rs916015043 | 19:18,321,804 | C/G | — | uncertain significance |
| rs948840153 | 19:18,321,806 | G/C | — | uncertain significance |
| rs2513609008 | 19:18,321,900 | G/T | — | uncertain significance |
| rs148119555 | 19:18,321,918 | C/G | — | uncertain significance |
| rs776743379 | 19:18,321,930 | G/A | — | likely benign |
| rs2513609313 | 19:18,321,963 | G/T | — | uncertain significance |
| rs2513609363 | 19:18,321,974 | T/C | — | uncertain significance |
| rs1291009909 | 19:18,322,076 | A/G | — | uncertain significance |
| rs369402107 | 19:18,322,077 | T/C | — | uncertain significance |
| rs1967956504 | 19:18,322,624 | C/A | — | uncertain significance |
| rs757850745 | 19:18,322,687 | C/T | — | uncertain significance |
| rs746699082 | 19:18,322,690 | T/C | — | uncertain significance |
| rs752486195 | 19:18,324,216 | C/T | — | uncertain significance |
| rs2302209 | 19:18,324,329 | C/T | intron variant | — |
| rs2513622605 | 19:18,327,648 | G/A | — | uncertain significance |
| rs773285462 | 19:18,327,659 | G/T | — | uncertain significance |
| rs1968222270 | 19:18,327,687 | A/G | — | uncertain significance |
| rs2513622810 | 19:18,327,688 | T/C | — | uncertain significance |
| rs151012513 | 19:18,328,963 | G/C | — | uncertain significance |
| rs2513625606 | 19:18,329,027 | G/A | — | uncertain significance |
| rs754509086 | 19:18,329,148 | A/C | — | uncertain significance |
| rs370618947 | 19:18,329,175 | G/A | — | uncertain significance |
| rs374321161 | 19:18,329,191 | C/T | — | uncertain significance |
| rs753824973 | 19:18,329,217 | G/A | — | uncertain significance |
| rs199850000 | 19:18,329,227 | C/T | — | uncertain significance |
| rs746619948 | 19:18,329,236 | G/A | — | uncertain significance |
| rs1428272715 | 19:18,329,286 | A/C | — | uncertain significance |
| rs1968339808 | 19:18,329,806 | C/T | — | uncertain significance |
| rs761409784 | 19:18,330,053 | T/C | — | likely benign |
| rs775410699 | 19:18,330,112 | C/A | — | uncertain significance |
| rs34503849 | 19:18,330,144 | C/T | — | benign |
| rs12461072 | 19:18,330,592 | C/G | intron variant | — |
| rs746916844 | 19:18,331,090 | C/T | — | uncertain significance |
| rs191605418 | 19:18,331,692 | G/A | — | uncertain significance |
| rs1459459120 | 19:18,331,949 | C/A | — | uncertain significance |
| rs750056384 | 19:18,331,973 | G/A | — | uncertain significance |
| rs61734285 | 19:18,332,993 | T/C | — | benign |
| rs2513638551 | 19:18,333,022 | C/A | — | uncertain significance |
| rs4808765 | 19:18,334,443 | C/T | regulatory region variant | — |
| rs11666033 | 19:18,334,805 | C/T | regulatory region variant | — |
| rs1294873659 | 19:18,343,761 | G/C | — | uncertain significance |
| rs571659585 | 19:18,343,916 | G/A | — | uncertain significance |
| rs1968887149 | 19:18,343,989 | C/A | — | uncertain significance |
| rs62120396 | 19:18,346,003 | C/T | intron variant | — |
| rs12460047 | 19:18,346,228 | G/C | — | — |
| rs565045534 | 19:18,359,368 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.