PPP3CC
protein phosphatase 3 catalytic subunit gamma
Summary
Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs559908748 | 8:22,298,935 | C/G | — | uncertain significance |
| rs760753352 | 8:22,298,944 | C/T | — | uncertain significance |
| rs1205875826 | 8:22,298,953 | A/C | — | uncertain significance |
| rs11780915 | 8:22,305,017 | G/A | intron variant | — |
| rs1879793 | 8:22,313,986 | G/T | — | — |
| rs10108011 | 8:22,320,806 | G/A | regulatory region variant | — |
| rs13271367 | 8:22,324,577 | A/G | intron variant | — |
| rs1320131635 | 8:22,332,507 | A/C | — | uncertain significance |
| rs2487384853 | 8:22,332,509 | T/C | — | uncertain significance |
| rs146307937 | 8:22,332,544 | A/C | — | likely benign |
| rs745800385 | 8:22,332,551 | A/G | — | uncertain significance |
| rs560532505 | 8:22,332,571 | C/G | — | uncertain significance |
| rs1837846811 | 8:22,332,602 | A/G | — | uncertain significance |
| rs201924888 | 8:22,332,608 | G/T | — | uncertain significance |
| rs150347888 | 8:22,333,041 | T/G | — | uncertain significance |
| rs1220305880 | 8:22,355,524 | A/G | — | uncertain significance |
| rs201570071 | 8:22,370,830 | G/A | — | uncertain significance |
| rs199697260 | 8:22,370,894 | C/T | — | uncertain significance |
| rs142268010 | 8:22,370,924 | G/T | — | uncertain significance |
| rs1075534 | 8:22,374,074 | A/T | — | — |
| rs2487544797 | 8:22,380,054 | T/A | — | uncertain significance |
| rs1839586041 | 8:22,384,907 | G/T | — | uncertain significance |
| rs2487565703 | 8:22,384,930 | T/G | — | uncertain significance |
| rs139802616 | 8:22,386,063 | G/A | — | uncertain significance |
| rs2461483 | 8:22,386,479 | C/G | — | — |
| rs117515533 | 8:22,388,848 | G/A | — | benign |
| rs769958673 | 8:22,389,782 | G/A | — | uncertain significance |
| rs1563790727 | 8:22,389,795 | T/C | — | uncertain significance |
| rs141498030 | 8:22,390,450 | G/A | — | uncertain significance |
| rs181246968 | 8:22,396,994 | C/T | — | uncertain significance |
| rs773602093 | 8:22,398,161 | G/A | — | uncertain significance |
| rs373005127 | 8:22,398,176 | C/T | — | uncertain significance |
| rs569926835 | 8:22,398,239 | G/T | — | uncertain significance |
| rs148030191 | 8:22,398,244 | A/T | — | uncertain significance |
| rs776167089 | 8:22,398,271 | C/A | — | likely benign |
| rs7430 | 8:22,398,414 | G/T | coding sequence variant | — |
| rs7431 | 8:22,398,462 | G/A | coding sequence variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.