KCNMB1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
Summary
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1764111050 | 5:169,805,757 | G/T | — | uncertain significance |
| rs2532028612 | 5:169,805,805 | G/C | — | uncertain significance |
| rs369035536 | 5:169,805,848 | C/T | — | uncertain significance |
| rs971882146 | 5:169,805,850 | C/T | — | uncertain significance |
| rs76348543 | 5:169,805,866 | G/A | — | benign |
| rs376837648 | 5:169,805,871 | G/A | — | uncertain significance |
| rs754879970 | 5:169,805,905 | A/T | — | uncertain significance |
| rs140971787 | 5:169,805,947 | A/C | — | uncertain significance |
| rs370206070 | 5:169,805,964 | G/A | — | uncertain significance |
| rs76888257 | 5:169,809,901 | C/T | intron variant | — |
| rs2071161 | 5:169,810,450 | G/A | intron variant | — |
| rs773722064 | 5:169,810,690 | T/C | — | uncertain significance |
| rs150439459 | 5:169,810,699 | C/T | — | uncertain significance |
| rs138146959 | 5:169,810,711 | G/A | — | uncertain significance |
| rs374733513 | 5:169,810,748 | C/G | — | uncertain significance |
| rs753087338 | 5:169,810,749 | G/A | — | likely benign |
| rs11739136 | 5:169,810,796 | C/T | missense variant | benign |
| rs780940473 | 5:169,812,358 | A/G | — | uncertain significance |
| rs45574034 | 5:169,812,398 | G/A | — | benign |
| rs766927552 | 5:169,812,439 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.