CAMK2A
calcium/calmodulin dependent protein kinase II alpha
Summary
The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]
Known Variants112 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs905371320 | 5:149,601,977 | C/G | — | likely benign |
| rs2481473020 | 5:149,602,046 | A/T | — | likely benign |
| rs1580890618 | 5:149,602,083 | C/T | — | uncertain significance |
| rs151118217 | 5:149,602,129 | C/G | — | likely benign |
| rs372475680 | 5:149,602,229 | T/C | — | likely benign |
| rs563702310 | 5:149,602,256 | G/A | — | likely benign |
| rs55976097 | 5:149,602,280 | C/T | — | benign |
| rs2481474371 | 5:149,602,283 | G/C | — | uncertain significance |
| rs17712679 | 5:149,602,363 | T/A | — | benign |
| rs2481475794 | 5:149,602,576 | G/C | — | uncertain significance |
| rs1554119274 | 5:149,602,589 | G/A | — | pathogenic |
| rs764264581 | 5:149,602,592 | C/A | — | uncertain significance |
| rs2481475905 | 5:149,602,599 | C/T | — | uncertain significance |
| rs2241694 | 5:149,602,608 | G/A | — | benign |
| rs2481475962 | 5:149,602,609 | T/C | — | uncertain significance |
| rs2481475982 | 5:149,602,612 | C/G | — | uncertain significance |
| rs777247730 | 5:149,602,639 | G/A | — | uncertain significance |
| rs1754406562 | 5:149,602,655 | G/T | — | likely benign |
| rs374924411 | 5:149,602,667 | C/T | — | uncertain significance |
| rs2481476362 | 5:149,602,685 | T/C | — | uncertain significance |
| rs754962340 | 5:149,602,687 | C/T | — | uncertain significance |
| rs767291853 | 5:149,602,688 | G/A | — | uncertain significance |
| rs200745191 | 5:149,602,698 | G/A | — | conflicting classifications of pathogenicity |
| rs1754415187 | 5:149,602,712 | C/T | — | likely benign |
| rs940219305 | 5:149,602,713 | G/A | — | likely benign |
| rs376355423 | 5:149,602,716 | G/A | — | likely benign |
| rs2481476924 | 5:149,602,781 | C/G | — | uncertain significance |
| rs768958439 | 5:149,602,784 | G/T | — | likely benign |
| rs776720632 | 5:149,602,785 | A/G | — | likely benign |
| rs2241695 | 5:149,602,824 | T/C | — | benign |
| rs139562036 | 5:149,604,662 | T/G | downstream gene variant | — |
| rs113331868 | 5:149,607,754 | C/T | — | conflicting classifications of pathogenicity |
| rs763794315 | 5:149,607,757 | T/G | — | likely benign |
| rs371839355 | 5:149,607,801 | C/T | — | likely benign |
| rs2053053 | 5:149,609,393 | G/A | intron variant | — |
| rs752941395 | 5:149,610,851 | G/T | — | likely benign |
| rs145765024 | 5:149,615,389 | T/A | intron variant | — |
| rs112770824 | 5:149,618,152 | G/A | intron variant | — |
| rs1755201903 | 5:149,618,259 | C/A | — | uncertain significance |
| rs1024265518 | 5:149,618,269 | T/C | — | uncertain significance |
| rs754671966 | 5:149,618,282 | G/A | — | likely benign |
| rs770841322 | 5:149,618,300 | C/G | — | uncertain significance |
| rs2532281595 | 5:149,619,266 | C/T | — | uncertain significance |
| rs1381339494 | 5:149,619,281 | T/C | — | uncertain significance |
| rs2532281654 | 5:149,619,287 | T/G | — | uncertain significance |
| rs4958456 | 5:149,623,365 | C/T | intron variant | — |
| rs2532296239 | 5:149,624,721 | T/C | — | likely benign |
| rs2114053675 | 5:149,624,732 | C/T | — | uncertain significance |
| rs869191 | 5:149,625,399 | C/T | — | — |
| rs373109150 | 5:149,627,331 | C/A | — | uncertain significance |
| rs1449666180 | 5:149,627,335 | C/T | — | uncertain significance |
| rs2532303477 | 5:149,627,338 | A/G | — | uncertain significance |
| rs757665103 | 5:149,627,360 | C/T | — | likely benign |
| rs1755639151 | 5:149,627,376 | C/T | — | likely pathogenic |
| rs2532303553 | 5:149,627,377 | C/T | — | pathogenic |
| rs1465769997 | 5:149,627,384 | G/A | — | uncertain significance |
| rs2532310162 | 5:149,629,805 | G/T | — | conflicting classifications of pathogenicity |
| rs2532310211 | 5:149,629,832 | G/T | — | likely pathogenic |
| rs1554121872 | 5:149,629,833 | T/G | — | pathogenic |
| rs1554121875 | 5:149,629,844 | T/C | — | pathogenic |
| rs1554121878 | 5:149,629,873 | C/T | — | pathogenic |
| rs2150279471 | 5:149,630,251 | C/T | — | uncertain significance |
| rs1562164380 | 5:149,630,258 | C/T | — | likely pathogenic |
| rs2532311966 | 5:149,630,292 | G/A | — | pathogenic |
| rs2532312025 | 5:149,630,312 | A/G | — | likely pathogenic |
| rs186348077 | 5:149,630,341 | C/T | — | likely benign |
| rs1325334771 | 5:149,630,355 | C/G | — | uncertain significance |
| rs864309606 | 5:149,630,363 | G/A | — | conflicting classifications of pathogenicity |
| rs371411676 | 5:149,630,365 | C/T | — | likely benign |
| rs1160671001 | 5:149,630,366 | G/C | — | uncertain significance |
| rs2532314939 | 5:149,631,315 | C/A | — | uncertain significance |
| rs749308142 | 5:149,631,322 | G/A | — | likely benign |
| rs201482484 | 5:149,631,325 | G/A | — | likely benign |
| rs2532315012 | 5:149,631,340 | G/T | — | pathogenic |
| rs926027867 | 5:149,631,371 | G/A | — | pathogenic |
| rs1755849782 | 5:149,631,402 | T/C | — | uncertain significance |
| rs2288799 | 5:149,631,413 | A/G | — | benign |
| rs2532315906 | 5:149,631,548 | A/T | — | uncertain significance |
| rs1554122129 | 5:149,631,595 | T/A | — | pathogenic |
| rs2532316136 | 5:149,631,598 | G/A | — | uncertain significance |
| rs2150280830 | 5:149,631,619 | C/G | — | likely pathogenic |
| rs1755922883 | 5:149,633,019 | G/A | — | pathogenic |
| rs986491632 | 5:149,633,070 | C/T | — | uncertain significance |
| rs373461784 | 5:149,633,071 | G/C | — | likely benign |
| rs2150282182 | 5:149,633,076 | C/T | — | uncertain significance |
| rs2532319609 | 5:149,633,106 | C/G | — | likely pathogenic |
| rs2532326244 | 5:149,636,135 | C/G | — | uncertain significance |
| rs200008559 | 5:149,636,337 | C/T | — | likely benign |
| rs779607303 | 5:149,636,338 | G/A | — | uncertain significance |
| rs1287121256 | 5:149,636,340 | C/G | — | pathogenic |
| rs55856831 | 5:149,636,355 | C/G | — | likely benign |
| rs2150284945 | 5:149,636,359 | G/A | — | uncertain significance |
| rs1554122526 | 5:149,636,374 | A/G | — | pathogenic |
| rs2532327182 | 5:149,636,377 | A/G | — | likely pathogenic |
| rs377385079 | 5:149,636,400 | G/A | — | uncertain significance |
| rs1293279565 | 5:149,637,127 | G/A | — | uncertain significance |
| rs1464070393 | 5:149,637,128 | G/A | — | uncertain significance |
| rs372258019 | 5:149,637,134 | G/A | — | likely benign |
| rs770876692 | 5:149,637,158 | T/G | — | likely benign |
| rs202107716 | 5:149,637,163 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 112 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.