CKM
creatine kinase, M-type
Summary
The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8111989 | 19:45,809,208 | T/C | downstream gene variant | — |
| rs142092440 | 19:45,810,010 | A/G | — | likely benign |
| rs2513950917 | 19:45,810,032 | G/T | — | uncertain significance |
| rs377736202 | 19:45,810,064 | C/G | — | uncertain significance |
| rs769563289 | 19:45,810,087 | C/T | — | uncertain significance |
| rs1971057465 | 19:45,810,147 | A/G | — | uncertain significance |
| rs138693691 | 19:45,810,886 | G/T | — | uncertain significance |
| rs149354459 | 19:45,811,692 | C/G | — | likely benign |
| rs2513952795 | 19:45,811,713 | C/T | — | uncertain significance |
| rs373872310 | 19:45,815,010 | A/T | — | uncertain significance |
| rs907562870 | 19:45,815,016 | C/T | — | uncertain significance |
| rs937525601 | 19:45,815,034 | C/T | — | uncertain significance |
| rs145987658 | 19:45,815,121 | G/C | missense variant | — |
| rs1971114284 | 19:45,815,170 | T/C | — | uncertain significance |
| rs10402747 | 19:45,815,248 | T/C | regulatory region variant | — |
| rs773753476 | 19:45,818,735 | G/A | — | uncertain significance |
| rs146705516 | 19:45,818,749 | C/T | — | uncertain significance |
| rs758534544 | 19:45,818,761 | C/A | — | uncertain significance |
| rs370269966 | 19:45,818,800 | C/T | — | uncertain significance |
| rs200253404 | 19:45,818,813 | C/T | — | uncertain significance |
| rs17875653 | 19:45,818,825 | G/C | — | uncertain significance |
| rs375179935 | 19:45,818,864 | C/T | — | benign |
| rs770291117 | 19:45,821,135 | C/T | — | uncertain significance |
| rs773623528 | 19:45,821,139 | C/T | — | uncertain significance |
| rs765177605 | 19:45,821,160 | G/A | — | uncertain significance |
| rs182320411 | 19:45,821,257 | G/A | intron variant | — |
| rs745799406 | 19:45,822,868 | G/T | — | uncertain significance |
| rs991104728 | 19:45,822,890 | T/G | — | uncertain significance |
| rs138224618 | 19:45,822,909 | G/A | — | likely benign |
| rs756475007 | 19:45,822,941 | T/C | — | uncertain significance |
| rs344816 | 19:45,825,626 | A/T | intron variant | — |
| rs344815 | 19:45,826,254 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.