CAMK1D
calcium/calmodulin dependent protein kinase ID
Summary
This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4750211 | 10:12,435,379 | C/T | intron variant | — |
| rs10906142 | 10:12,438,783 | G/A | regulatory region variant | — |
| rs10795956 | 10:12,488,136 | G/T | — | — |
| rs7897059 | 10:12,591,712 | C/G | — | — |
| rs370966780 | 10:12,595,252 | G/A | — | uncertain significance |
| rs758758416 | 10:12,595,304 | C/T | — | uncertain significance |
| rs34194224 | 10:12,595,329 | G/A | — | benign |
| rs2491185747 | 10:12,595,339 | A/G | — | uncertain significance |
| rs2249796 | 10:12,596,669 | A/C | — | — |
| rs548500870 | 10:12,627,680 | C/G | — | — |
| rs10906189 | 10:12,675,061 | G/A | intron variant | — |
| rs185932673 | 10:12,698,439 | C/T | intron variant | — |
| rs533941215 | 10:12,700,340 | G/A | — | — |
| rs75263140 | 10:12,702,569 | A/G | intron variant | — |
| rs1435005582 | 10:12,708,784 | A/C | — | uncertain significance |
| rs61847363 | 10:12,745,648 | A/G | intron variant | — |
| rs149215581 | 10:12,802,947 | G/C | — | likely benign |
| rs550997889 | 10:12,802,971 | C/T | — | benign |
| rs2538689475 | 10:12,833,168 | C/G | — | uncertain significance |
| rs745306887 | 10:12,858,300 | C/T | — | uncertain significance |
| rs185727180 | 10:12,858,318 | G/A | — | uncertain significance |
| rs1757052 | 10:12,864,394 | T/A | intron variant | — |
| rs145937671 | 10:12,866,506 | C/T | — | likely benign |
| rs2131137725 | 10:12,870,795 | T/C | — | uncertain significance |
| rs200052874 | 10:12,870,833 | G/A | — | uncertain significance |
| rs2431623 | 10:12,872,880 | A/G | 3 prime UTR variant | — |
| rs10906233 | 10:12,875,208 | C/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.