KCNS3
potassium voltage-gated channel modifier subfamily S member 3
Summary
Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12470954 | 2:18,088,222 | G/A | — | — |
| rs1346890703 | 2:18,112,336 | G/A | — | uncertain significance |
| rs147647932 | 2:18,112,634 | G/A | — | uncertain significance |
| rs147163003 | 2:18,112,637 | A/G | — | likely benign |
| rs1662961721 | 2:18,112,655 | A/G | — | uncertain significance |
| rs1206327962 | 2:18,112,669 | G/C | — | uncertain significance |
| rs2545769184 | 2:18,112,696 | A/C | — | uncertain significance |
| rs201851493 | 2:18,112,706 | C/G | — | uncertain significance |
| rs767905367 | 2:18,112,721 | C/T | — | uncertain significance |
| rs753326896 | 2:18,112,825 | G/A | — | uncertain significance |
| rs537401566 | 2:18,112,873 | G/T | — | uncertain significance |
| rs1662975878 | 2:18,112,876 | G/A | — | association |
| rs1215789385 | 2:18,112,879 | A/G | — | uncertain significance |
| rs144701569 | 2:18,112,885 | G/A | — | uncertain significance |
| rs368555119 | 2:18,112,898 | C/T | — | uncertain significance |
| rs965167461 | 2:18,113,155 | C/T | — | uncertain significance |
| rs749686704 | 2:18,113,207 | G/A | — | uncertain significance |
| rs143152428 | 2:18,113,308 | G/A | — | uncertain significance |
| rs1663007354 | 2:18,113,342 | G/A | — | uncertain significance |
| rs758042404 | 2:18,113,383 | A/G | — | uncertain significance |
| rs1271951800 | 2:18,113,410 | G/T | — | uncertain significance |
| rs34658212 | 2:18,113,420 | C/T | — | benign |
| rs775574102 | 2:18,113,434 | G/A | — | uncertain significance |
| rs1171341606 | 2:18,113,581 | C/G | — | uncertain significance |
| rs142950694 | 2:18,113,614 | C/T | — | uncertain significance |
| rs78213799 | 2:18,113,615 | G/A | — | uncertain significance |
| rs144169570 | 2:18,113,619 | G/A | — | uncertain significance |
| rs753625952 | 2:18,113,681 | A/T | — | uncertain significance |
| rs372616624 | 2:18,113,701 | A/G | — | uncertain significance |
| rs142534840 | 2:18,113,710 | A/G | — | likely benign |
| rs1211938390 | 2:18,113,726 | C/A | — | uncertain significance |
| rs1031772 | 2:18,114,553 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.