CAMK2G
calcium/calmodulin dependent protein kinase II gamma
Summary
The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs911011737 | 10:75,574,783 | G/A | — | uncertain significance |
| rs2133013133 | 10:75,574,805 | A/T | — | uncertain significance |
| rs1041997142 | 10:75,574,853 | G/A | — | uncertain significance |
| rs140348836 | 10:75,574,902 | C/T | — | benign |
| rs1243870956 | 10:75,574,949 | C/T | — | uncertain significance |
| rs2547800313 | 10:75,574,976 | T/C | — | uncertain significance |
| rs757705577 | 10:75,576,628 | C/T | — | uncertain significance |
| rs2547838429 | 10:75,576,632 | G/T | — | uncertain significance |
| rs561058168 | 10:75,576,780 | C/T | — | uncertain significance |
| rs56230636 | 10:75,576,857 | G/A | — | benign |
| rs2547843496 | 10:75,576,871 | T/C | — | uncertain significance |
| rs763255076 | 10:75,577,237 | G/A | — | likely benign |
| rs375277421 | 10:75,577,267 | G/T | — | uncertain significance |
| rs2547853486 | 10:75,577,295 | T/A | — | uncertain significance |
| rs2087019133 | 10:75,579,292 | G/C | — | uncertain significance |
| rs972847059 | 10:75,579,335 | G/A | — | uncertain significance |
| rs140838281 | 10:75,579,358 | C/T | — | uncertain significance |
| rs985466758 | 10:75,579,391 | C/T | — | uncertain significance |
| rs2547893657 | 10:75,579,395 | G/A | — | uncertain significance |
| rs1479258170 | 10:75,579,397 | G/A | — | uncertain significance |
| rs7098444 | 10:75,580,042 | C/T | regulatory region variant | — |
| rs2547960138 | 10:75,581,452 | C/T | — | uncertain significance |
| rs2547960192 | 10:75,581,453 | A/T | — | likely pathogenic |
| rs774341357 | 10:75,581,456 | T/A | — | uncertain significance |
| rs1367245454 | 10:75,581,466 | G/A | — | uncertain significance |
| rs199893895 | 10:75,581,469 | T/C | — | uncertain significance |
| rs2547960908 | 10:75,581,479 | C/A | — | uncertain significance |
| rs772023648 | 10:75,583,814 | G/T | — | uncertain significance |
| rs775379645 | 10:75,583,815 | C/T | — | uncertain significance |
| rs2090083855 | 10:75,583,817 | T/C | — | uncertain significance |
| rs2090084601 | 10:75,583,818 | T/C | — | uncertain significance |
| rs371217848 | 10:75,585,057 | C/T | — | likely benign |
| rs756590576 | 10:75,585,087 | T/G | — | uncertain significance |
| rs2548048256 | 10:75,585,089 | T/C | — | uncertain significance |
| rs375585838 | 10:75,597,235 | G/A | — | likely benign |
| rs765989347 | 10:75,597,241 | C/T | — | likely benign |
| rs17630952 | 10:75,601,414 | T/A | regulatory region variant | — |
| rs2459446 | 10:75,601,596 | C/G | coding sequence variant | — |
| rs200585413 | 10:75,601,955 | C/T | — | likely benign |
| rs201295644 | 10:75,602,207 | G/A | — | likely benign |
| rs2548411405 | 10:75,602,230 | G/A | — | likely pathogenic |
| rs397514627 | 10:75,602,244 | C/G | — | pathogenic |
| rs2134435974 | 10:75,602,251 | A/G | — | uncertain significance |
| rs200186779 | 10:75,606,992 | C/T | — | likely benign |
| rs908594003 | 10:75,607,017 | G/A | — | uncertain significance |
| rs2134745451 | 10:75,607,072 | C/A | — | uncertain significance |
| rs1274877270 | 10:75,607,083 | G/A | — | uncertain significance |
| rs2548515709 | 10:75,607,087 | C/T | — | uncertain significance |
| rs2548515763 | 10:75,607,095 | G/A | — | uncertain significance |
| rs2548530010 | 10:75,607,766 | T/C | — | likely pathogenic |
| rs2548530143 | 10:75,607,777 | A/C | — | uncertain significance |
| rs2548530294 | 10:75,607,798 | C/G | — | uncertain significance |
| rs145050479 | 10:75,608,294 | G/C | — | uncertain significance |
| rs2134881710 | 10:75,608,839 | C/T | — | uncertain significance |
| rs2548559706 | 10:75,609,082 | T/C | — | uncertain significance |
| rs368822119 | 10:75,609,090 | G/T | — | uncertain significance |
| rs772531683 | 10:75,612,067 | C/T | — | not provided |
| rs2250140 | 10:75,612,881 | T/C | — | benign |
| rs2548645436 | 10:75,612,956 | A/G | — | uncertain significance |
| rs2548645478 | 10:75,612,960 | C/T | — | uncertain significance |
| rs2664282 | 10:75,620,757 | T/C | — | benign |
| rs2675671 | 10:75,632,760 | T/C | — | benign |
| rs774447392 | 10:75,632,766 | G/C | — | likely benign |
| rs2549071196 | 10:75,632,824 | A/G | — | uncertain significance |
| rs2549121389 | 10:75,634,194 | C/T | — | uncertain significance |
| rs147311100 | 10:75,634,205 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.