PPM1E
protein phosphatase, Mg2+/Mn2+ dependent 1E
Summary
This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1205695111 | 17:56,833,416 | G/C | — | uncertain significance |
| rs761409476 | 17:56,833,432 | C/A | — | uncertain significance |
| rs58091258 | 17:56,833,491 | T/C | — | uncertain significance |
| rs61052860 | 17:56,833,497 | C/T | — | uncertain significance |
| rs2509386920 | 17:56,833,530 | G/T | — | uncertain significance |
| rs369227855 | 17:56,833,576 | T/A | — | uncertain significance |
| rs987438080 | 17:56,833,622 | G/C | — | uncertain significance |
| rs2509387327 | 17:56,833,692 | T/G | — | uncertain significance |
| rs2144117239 | 17:56,833,699 | T/G | — | uncertain significance |
| rs2049763764 | 17:56,833,702 | C/T | — | uncertain significance |
| rs2144117444 | 17:56,833,717 | A/G | — | uncertain significance |
| rs936724323 | 17:56,833,723 | C/A | — | uncertain significance |
| rs1052458788 | 17:56,833,758 | C/A | — | uncertain significance |
| rs1474670767 | 17:56,833,789 | G/T | — | uncertain significance |
| rs9303401 | 17:56,847,945 | C/T | intron variant | — |
| rs12949925 | 17:56,853,072 | A/G | intron variant | — |
| rs186872240 | 17:56,865,995 | A/G | intron variant | — |
| rs145116655 | 17:56,900,690 | G/T | — | — |
| rs146148297 | 17:56,924,009 | G/A | intron variant | — |
| rs66954617 | 17:56,999,427 | A/C | — | — |
| rs7221274 | 17:57,008,128 | A/G | intron variant | — |
| rs561031826 | 17:57,013,832 | C/G | — | — |
| rs377578160 | 17:57,043,120 | G/A | — | uncertain significance |
| rs751194838 | 17:57,043,129 | T/C | — | uncertain significance |
| rs146882728 | 17:57,043,150 | C/G | — | uncertain significance |
| rs2509594749 | 17:57,046,931 | T/C | — | uncertain significance |
| rs771159498 | 17:57,046,997 | G/A | — | uncertain significance |
| rs750572348 | 17:57,057,574 | A/G | — | uncertain significance |
| rs752040040 | 17:57,057,616 | A/G | — | uncertain significance |
| rs368424199 | 17:57,057,886 | C/T | — | uncertain significance |
| rs139860807 | 17:57,057,898 | T/G | — | uncertain significance |
| rs1338458031 | 17:57,058,016 | A/G | — | uncertain significance |
| rs1238678730 | 17:57,058,090 | C/G | — | uncertain significance |
| rs2031307608 | 17:57,058,102 | C/G | — | uncertain significance |
| rs772314556 | 17:57,058,103 | C/T | — | likely benign |
| rs764019992 | 17:57,058,159 | C/T | — | uncertain significance |
| rs150938883 | 17:57,058,177 | C/T | — | likely benign |
| rs780412050 | 17:57,058,192 | T/C | — | uncertain significance |
| rs749650098 | 17:57,058,250 | G/A | — | uncertain significance |
| rs1325269508 | 17:57,058,326 | G/A | — | uncertain significance |
| rs2509644769 | 17:57,058,383 | A/C | — | uncertain significance |
| rs1391979618 | 17:57,058,385 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.