KCND3
potassium voltage-gated channel subfamily D member 3
Summary
Voltage-gated potassium (Kv) 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, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
Known Variants463 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72548736 | 1:112,318,474 | A/G | — | likely benign |
| rs12033257 | 1:112,318,484 | G/A | — | benign |
| rs774711788 | 1:112,318,707 | C/T | — | uncertain significance |
| rs147087785 | 1:112,318,708 | G/A | — | likely benign |
| rs2524986264 | 1:112,318,717 | G/T | — | likely benign |
| rs760907112 | 1:112,318,721 | A/G | — | uncertain significance |
| rs766562520 | 1:112,318,724 | T/C | — | uncertain significance |
| rs753669886 | 1:112,318,725 | T/C | — | uncertain significance |
| rs910058506 | 1:112,318,730 | G/T | — | uncertain significance |
| rs1557929628 | 1:112,318,733 | A/G | — | uncertain significance |
| rs754759010 | 1:112,318,743 | T/A | — | uncertain significance |
| rs1167459243 | 1:112,318,747 | C/T | — | conflicting classifications of pathogenicity |
| rs752589615 | 1:112,318,748 | G/A | — | conflicting classifications of pathogenicity |
| rs777172603 | 1:112,318,750 | G/T | — | likely benign |
| rs780988439 | 1:112,318,770 | G/T | — | uncertain significance |
| rs1261735013 | 1:112,318,772 | G/C | — | uncertain significance |
| rs147262533 | 1:112,318,777 | C/T | — | benign |
| rs774713377 | 1:112,318,778 | C/T | — | conflicting classifications of pathogenicity |
| rs1261785107 | 1:112,318,779 | G/A | — | uncertain significance |
| rs1435444967 | 1:112,318,782 | T/A | — | uncertain significance |
| rs372362132 | 1:112,318,788 | C/T | — | uncertain significance |
| rs2101452061 | 1:112,318,794 | G/A | — | uncertain significance |
| rs766650482 | 1:112,318,801 | C/T | — | likely benign |
| rs199663609 | 1:112,318,802 | G/T | — | uncertain significance |
| rs1417756814 | 1:112,318,803 | C/A | — | uncertain significance |
| rs752495973 | 1:112,318,806 | G/C | — | uncertain significance |
| rs758318696 | 1:112,318,808 | G/T | — | uncertain significance |
| rs895254433 | 1:112,318,811 | G/A | — | uncertain significance |
| rs1664100783 | 1:112,318,813 | G/T | — | likely benign |
| rs948125814 | 1:112,318,818 | T/C | — | uncertain significance |
| rs2524987722 | 1:112,318,838 | A/G | — | uncertain significance |
| rs1256882348 | 1:112,318,864 | C/T | — | likely benign |
| rs2101452482 | 1:112,318,868 | C/G | — | uncertain significance |
| rs149344567 | 1:112,318,869 | C/T | missense variant | pathogenic |
| rs745523741 | 1:112,318,870 | G/A | — | likely benign |
| rs1212724994 | 1:112,318,872 | C/T | — | uncertain significance |
| rs181971539 | 1:112,318,873 | G/A | — | likely benign |
| rs1483036958 | 1:112,318,883 | A/C | — | uncertain significance |
| rs903701604 | 1:112,318,895 | G/C | — | uncertain significance |
| rs186194682 | 1:112,318,898 | C/T | — | conflicting classifications of pathogenicity |
| rs1157911221 | 1:112,318,904 | G/C | — | likely benign |
| rs1571620165 | 1:112,318,917 | T/G | — | likely benign |
| rs17028535 | 1:112,318,972 | A/G | — | benign |
| rs45576236 | 1:112,319,388 | G/A | — | benign |
| rs748524463 | 1:112,319,645 | C/T | — | likely benign |
| rs545602928 | 1:112,319,652 | T/C | — | conflicting classifications of pathogenicity |
| rs2524992805 | 1:112,319,656 | G/A | — | likely benign |
| rs778053688 | 1:112,319,658 | G/C | — | conflicting classifications of pathogenicity |
| rs1377170276 | 1:112,319,660 | G/A | — | uncertain significance |
| rs771385731 | 1:112,319,662 | G/T | — | likely benign |
| rs2524992940 | 1:112,319,665 | C/G | — | uncertain significance |
| rs2101456005 | 1:112,319,669 | T/C | — | uncertain significance |
| rs1273639477 | 1:112,319,671 | A/G | — | likely benign |
| rs1420542041 | 1:112,319,673 | T/A | — | uncertain significance |
| rs2524993021 | 1:112,319,674 | G/T | — | likely benign |
| rs1280290230 | 1:112,319,678 | T/G | — | uncertain significance |
| rs202226567 | 1:112,319,681 | A/G | — | uncertain significance |
| rs148478583 | 1:112,319,689 | C/T | — | likely benign |
| rs775768536 | 1:112,319,690 | G/A | — | uncertain significance |
| rs763028439 | 1:112,319,699 | T/A | — | uncertain significance |
| rs1553235743 | 1:112,319,705 | A/G | — | uncertain significance |
| rs200212002 | 1:112,319,711 | C/T | — | conflicting classifications of pathogenicity |
| rs144120746 | 1:112,319,712 | G/A | — | conflicting classifications of pathogenicity |
| rs923335129 | 1:112,319,713 | C/T | — | likely benign |
| rs761867267 | 1:112,319,717 | C/T | — | uncertain significance |
| rs139901716 | 1:112,319,718 | G/A | — | conflicting classifications of pathogenicity |
| rs1664152911 | 1:112,319,722 | A/C | — | likely benign |
| rs1165285632 | 1:112,319,728 | C/T | — | likely benign |
| rs749990612 | 1:112,319,731 | G/A | — | likely benign |
| rs2524993896 | 1:112,319,737 | A/T | — | uncertain significance |
| rs1207607939 | 1:112,319,740 | G/T | — | likely benign |
| rs1355025650 | 1:112,319,741 | G/C | — | uncertain significance |
| rs2101456436 | 1:112,319,742 | G/A | — | uncertain significance |
| rs1571621642 | 1:112,319,754 | T/A | — | uncertain significance |
| rs151164490 | 1:112,319,765 | C/T | — | conflicting classifications of pathogenicity |
| rs778141653 | 1:112,319,766 | G/A | — | conflicting classifications of pathogenicity |
| rs35027371 | 1:112,319,768 | C/T | — | conflicting classifications of pathogenicity |
| rs1294150954 | 1:112,319,769 | G/A | — | conflicting classifications of pathogenicity |
| rs1471572255 | 1:112,319,773 | G/A | — | likely benign |
| rs969494348 | 1:112,319,780 | G/A | — | uncertain significance |
| rs2524994655 | 1:112,319,792 | C/T | — | uncertain significance |
| rs2524994793 | 1:112,319,799 | G/T | — | uncertain significance |
| rs1553235768 | 1:112,319,813 | G/A | — | uncertain significance |
| rs1447493103 | 1:112,319,814 | G/T | — | uncertain significance |
| rs1178561476 | 1:112,319,826 | A/T | — | uncertain significance |
| rs1037541026 | 1:112,319,827 | T/C | — | likely benign |
| rs2524995175 | 1:112,319,828 | G/A | — | uncertain significance |
| rs1338355211 | 1:112,319,840 | A/C | — | uncertain significance |
| rs145890206 | 1:112,319,841 | T/C | — | likely benign |
| rs1167124096 | 1:112,319,846 | C/T | — | uncertain significance |
| rs749559538 | 1:112,319,850 | C/T | — | uncertain significance |
| rs768952584 | 1:112,319,853 | T/C | — | uncertain significance |
| rs539783611 | 1:112,319,854 | G/A | — | likely benign |
| rs1420807078 | 1:112,319,855 | C/T | — | uncertain significance |
| rs202110939 | 1:112,319,865 | C/G | — | uncertain significance |
| rs2524995673 | 1:112,319,870 | A/G | — | uncertain significance |
| rs369907159 | 1:112,319,871 | T/G | — | uncertain significance |
| rs1013788086 | 1:112,319,875 | C/T | — | likely benign |
| rs1342511268 | 1:112,319,878 | A/C | — | uncertain significance |
| rs1664166577 | 1:112,319,879 | T/G | — | uncertain significance |
Showing 100 of 463 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.