CAMKK1
calcium/calmodulin dependent protein kinase kinase 1
Summary
The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375559181 | 17:3,769,244 | C/T | — | uncertain significance |
| rs771707252 | 17:3,769,247 | G/T | — | uncertain significance |
| rs776101005 | 17:3,769,277 | C/T | — | uncertain significance |
| rs746107831 | 17:3,772,817 | C/A | — | uncertain significance |
| rs191868145 | 17:3,772,846 | C/T | — | uncertain significance |
| rs145473337 | 17:3,772,856 | C/G | — | uncertain significance |
| rs200526253 | 17:3,772,882 | C/T | — | uncertain significance |
| rs575780308 | 17:3,773,121 | T/C | — | uncertain significance |
| rs1157776249 | 17:3,773,124 | C/G | — | uncertain significance |
| rs147240137 | 17:3,773,125 | G/A | — | likely benign |
| rs1285671110 | 17:3,773,166 | C/T | — | uncertain significance |
| rs7214723 | 17:3,775,848 | T/C | missense variant | — |
| rs776802217 | 17:3,775,906 | C/T | — | uncertain significance |
| rs200681197 | 17:3,776,732 | C/T | — | uncertain significance |
| rs2508442767 | 17:3,779,570 | C/T | — | uncertain significance |
| rs752055786 | 17:3,779,584 | G/A | — | uncertain significance |
| rs377491155 | 17:3,779,649 | G/T | — | uncertain significance |
| rs144606226 | 17:3,779,699 | C/T | — | likely benign |
| rs756101063 | 17:3,783,709 | A/G | — | uncertain significance |
| rs201476330 | 17:3,783,717 | T/C | — | uncertain significance |
| rs74582253 | 17:3,785,618 | G/C | missense variant | — |
| rs377173533 | 17:3,786,400 | C/T | — | uncertain significance |
| rs758642 | 17:3,786,907 | G/A | intron variant | — |
| rs760702571 | 17:3,787,183 | G/A | — | uncertain significance |
| rs140341686 | 17:3,787,200 | T/C | — | uncertain significance |
| rs201085151 | 17:3,787,715 | C/T | — | uncertain significance |
| rs1395835406 | 17:3,788,684 | A/T | — | uncertain significance |
| rs149002011 | 17:3,788,812 | C/G | — | uncertain significance |
| rs750564713 | 17:3,788,842 | C/T | — | uncertain significance |
| rs780282099 | 17:3,788,845 | G/C | — | uncertain significance |
| rs1253533984 | 17:3,788,912 | C/T | — | uncertain significance |
| rs368347160 | 17:3,788,944 | C/T | — | uncertain significance |
| rs1437070135 | 17:3,788,969 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.