CAMK2D
calcium/calmodulin dependent protein kinase II delta
Summary
The product of this gene 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 delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1880529 | 4:114,379,379 | C/G | — | — |
| rs62314976 | 4:114,385,676 | C/T | intron variant | — |
| rs199963971 | 4:114,386,712 | A/G | — | uncertain significance |
| rs35430511 | 4:114,387,138 | T/C | intron variant | — |
| rs17046113 | 4:114,425,626 | A/G | intron variant | — |
| rs538448636 | 4:114,426,094 | A/G | intron variant | — |
| rs374130979 | 4:114,430,799 | C/T | — | uncertain significance |
| rs1590480879 | 4:114,434,516 | A/G | — | uncertain significance |
| rs2511649109 | 4:114,435,008 | A/G | — | likely pathogenic |
| rs2511649293 | 4:114,435,016 | C/G | — | pathogenic |
| rs2511651126 | 4:114,435,065 | C/T | — | pathogenic |
| rs2511651497 | 4:114,435,068 | T/G | — | pathogenic |
| rs767115074 | 4:114,436,295 | T/C | — | uncertain significance |
| rs144277535 | 4:114,436,324 | C/T | — | benign |
| rs372378514 | 4:114,436,357 | T/C | — | benign |
| rs867010473 | 4:114,438,787 | C/T | — | pathogenic |
| rs79705764 | 4:114,438,818 | A/G | — | benign |
| rs7700110 | 4:114,439,894 | G/A | intron variant | — |
| rs6816233 | 4:114,444,746 | T/A | intron variant | — |
| rs6533694 | 4:114,444,761 | T/G | intron variant | — |
| rs6829664 | 4:114,448,656 | A/G | intron variant | — |
| rs35367671 | 4:114,458,513 | G/T | — | likely benign |
| rs2512545072 | 4:114,458,598 | G/A | — | pathogenic |
| rs2098989283 | 4:114,530,307 | C/A | — | pathogenic |
| rs2098989299 | 4:114,530,318 | C/T | — | uncertain significance |
| rs2515933527 | 4:114,530,347 | C/T | — | pathogenic |
| rs80195545 | 4:114,556,431 | A/G | intron variant | — |
| rs759589868 | 4:114,582,893 | G/A | — | uncertain significance |
| rs13107662 | 4:114,584,811 | T/G | — | — |
| rs115143758 | 4:114,668,476 | A/T | — | — |
| rs6858698 | 4:114,683,844 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.