PPP5C
protein phosphatase 5 catalytic subunit
Summary
This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4802307 | 19:46,849,806 | G/T | regulatory region variant | — |
| rs138763336 | 19:46,850,355 | T/C | — | likely benign |
| rs150667064 | 19:46,850,394 | C/G | — | uncertain significance |
| rs770899505 | 19:46,850,411 | C/G | — | uncertain significance |
| rs2147353981 | 19:46,850,412 | C/T | — | uncertain significance |
| rs1288140755 | 19:46,850,421 | G/A | — | uncertain significance |
| rs62136101 | 19:46,854,055 | C/G | — | — |
| rs534666677 | 19:46,854,741 | C/T | — | — |
| rs906188983 | 19:46,857,012 | C/G | — | uncertain significance |
| rs2513985577 | 19:46,857,022 | G/A | — | uncertain significance |
| rs1462431375 | 19:46,857,043 | G/T | — | uncertain significance |
| rs2513985645 | 19:46,857,067 | G/A | — | uncertain significance |
| rs2513985709 | 19:46,857,107 | C/T | — | uncertain significance |
| rs1418368236 | 19:46,857,245 | C/T | — | uncertain significance |
| rs12459222 | 19:46,859,301 | G/A | — | — |
| rs62136106 | 19:46,868,385 | A/G | intron variant | — |
| rs10409174 | 19:46,873,965 | A/T | — | — |
| rs1972680058 | 19:46,878,888 | G/T | — | uncertain significance |
| rs372807877 | 19:46,878,923 | C/G | — | uncertain significance |
| rs199924972 | 19:46,878,945 | C/T | — | uncertain significance |
| rs765157979 | 19:46,878,955 | C/G | — | uncertain significance |
| rs558480632 | 19:46,878,960 | G/A | — | uncertain significance |
| rs751265952 | 19:46,878,973 | G/A | — | uncertain significance |
| rs4239538 | 19:46,878,989 | G/A | — | likely benign |
| rs45587933 | 19:46,886,234 | G/T | coding sequence variant | — |
| rs190089663 | 19:46,886,720 | C/T | — | uncertain significance |
| rs2514025870 | 19:46,888,146 | A/G | — | uncertain significance |
| rs147006420 | 19:46,890,360 | G/A | — | likely benign |
| rs1452420186 | 19:46,890,391 | G/A | — | uncertain significance |
| rs571000092 | 19:46,890,481 | G/A | — | uncertain significance |
| rs367544623 | 19:46,891,861 | G/A | — | uncertain significance |
| rs765309737 | 19:46,891,927 | G/A | — | conflicting classifications of pathogenicity |
| rs148346594 | 19:46,893,361 | G/A | — | uncertain significance |
| rs377014797 | 19:46,893,373 | A/G | — | uncertain significance |
| rs376307768 | 19:46,893,578 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.