PCMTD2
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2
Summary
Predicted to enable protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Predicted to be involved in protein modification process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6062678 | 20:62,888,802 | G/T | intron variant | — |
| rs6062679 | 20:62,889,991 | T/C | intron variant | — |
| rs1808056 | 20:62,890,932 | G/C | — | — |
| rs774726520 | 20:62,891,392 | G/A | — | uncertain significance |
| rs746565490 | 20:62,891,515 | C/T | — | uncertain significance |
| rs372906957 | 20:62,891,553 | C/G | — | uncertain significance |
| rs6062682 | 20:62,891,820 | C/T | intron variant | — |
| rs780770344 | 20:62,899,340 | G/A | — | uncertain significance |
| rs755474706 | 20:62,904,615 | G/A | — | uncertain significance |
| rs199974837 | 20:62,904,657 | G/T | — | uncertain significance |
| rs144264619 | 20:62,904,715 | G/A | — | uncertain significance |
| rs557789541 | 20:62,904,778 | A/G | — | uncertain significance |
| rs777948252 | 20:62,904,798 | T/C | — | uncertain significance |
| rs1985991846 | 20:62,904,799 | G/T | — | uncertain significance |
| rs928297627 | 20:62,904,844 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.