KCNAB1
potassium voltage-gated channel subfamily A regulatory beta subunit 1
Summary
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72558048 | 3:155,838,485 | G/C | — | benign |
| rs67167156 | 3:155,838,488 | G/C | — | benign |
| rs144052895 | 3:155,838,501 | C/G | — | likely benign |
| rs9812862 | 3:155,838,637 | C/T | — | benign |
| rs4679760 | 3:155,855,418 | C/G | intron variant | — |
| rs4359773 | 3:155,862,524 | G/T | — | — |
| rs2167144 | 3:155,994,762 | G/A | intron variant | — |
| rs188077724 | 3:156,024,815 | C/T | intron variant | — |
| rs564824298 | 3:156,056,318 | C/G | — | — |
| rs3772255 | 3:156,102,734 | C/T | intron variant | — |
| rs7615568 | 3:156,105,084 | T/A | — | — |
| rs750550350 | 3:156,175,272 | G/C | — | uncertain significance |
| rs746326557 | 3:156,192,598 | C/G | — | uncertain significance |
| rs75648931 | 3:156,234,108 | A/G | — | benign |
| rs370046885 | 3:156,234,115 | G/A | — | uncertain significance |
| rs144942562 | 3:156,241,638 | G/A | — | uncertain significance |
| rs866610957 | 3:156,241,643 | G/T | — | uncertain significance |
| rs991123786 | 3:156,249,252 | C/G | — | uncertain significance |
| rs778184429 | 3:156,254,514 | G/C | — | uncertain significance |
| rs992353 | 3:156,256,461 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.