KCNC2
potassium voltage-gated channel subfamily C member 2
Summary
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs202018171 | 12:75,436,121 | G/A | — | uncertain significance |
| rs201339164 | 12:75,436,154 | T/A | — | uncertain significance |
| rs10506677 | 12:75,439,487 | G/T | — | — |
| rs151248231 | 12:75,441,944 | C/G | — | uncertain significance |
| rs372341671 | 12:75,442,028 | C/A | — | uncertain significance |
| rs749078233 | 12:75,442,078 | A/T | — | uncertain significance |
| rs923590869 | 12:75,444,187 | A/T | — | uncertain significance |
| rs201668041 | 12:75,444,193 | C/T | — | uncertain significance |
| rs1881044098 | 12:75,444,205 | C/A | — | uncertain significance |
| rs2547843073 | 12:75,444,218 | C/G | — | uncertain significance |
| rs1176921109 | 12:75,444,259 | C/A | — | uncertain significance |
| rs2547843590 | 12:75,444,361 | T/G | — | uncertain significance |
| rs1881066035 | 12:75,444,367 | A/T | — | likely pathogenic |
| rs2136943353 | 12:75,444,374 | C/G | — | pathogenic |
| rs1881066861 | 12:75,444,377 | G/A | — | conflicting classifications of pathogenicity |
| rs2136943414 | 12:75,444,380 | C/A | — | uncertain significance |
| rs2547843639 | 12:75,444,382 | G/A | — | uncertain significance |
| rs2136943757 | 12:75,444,476 | T/C | — | pathogenic |
| rs2547843863 | 12:75,444,493 | G/A | — | uncertain significance |
| rs2136944093 | 12:75,444,572 | T/C | — | likely pathogenic |
| rs1260222970 | 12:75,444,575 | C/T | — | likely pathogenic |
| rs2547844200 | 12:75,444,622 | A/G | — | pathogenic |
| rs149433460 | 12:75,444,639 | A/G | — | likely benign |
| rs1881091856 | 12:75,444,640 | A/C | — | uncertain significance |
| rs374596117 | 12:75,444,668 | G/C | — | uncertain significance |
| rs2136944684 | 12:75,444,733 | C/T | — | pathogenic |
| rs2547844456 | 12:75,444,784 | C/T | — | uncertain significance |
| rs371846580 | 12:75,445,006 | T/C | — | uncertain significance |
| rs376587134 | 12:75,445,063 | A/G | — | uncertain significance |
| rs201918890 | 12:75,445,076 | A/G | — | likely benign |
| rs187237230 | 12:75,451,604 | C/T | intron variant | — |
| rs7305079 | 12:75,464,411 | A/T | intron variant | — |
| rs2061406 | 12:75,494,517 | G/A | intron variant | — |
| rs74402682 | 12:75,598,315 | A/G | intron variant | — |
| rs2548167149 | 12:75,601,127 | G/A | — | uncertain significance |
| rs201721348 | 12:75,601,178 | C/T | — | uncertain significance |
| rs1199794631 | 12:75,601,192 | C/T | — | uncertain significance |
| rs200315364 | 12:75,601,240 | A/G | — | uncertain significance |
| rs201428363 | 12:75,601,248 | G/C | — | likely benign |
| rs2137827783 | 12:75,601,265 | C/A | — | pathogenic |
| rs2548168192 | 12:75,601,277 | C/T | — | likely pathogenic |
| rs2548168428 | 12:75,601,325 | C/G | — | uncertain significance |
| rs758585293 | 12:75,601,334 | C/T | — | uncertain significance |
| rs2137828445 | 12:75,601,360 | T/C | — | pathogenic |
| rs61735712 | 12:75,601,389 | G/A | — | pathogenic |
| rs2548168788 | 12:75,601,403 | C/A | — | uncertain significance |
| rs2548168935 | 12:75,601,442 | G/A | — | uncertain significance |
| rs1388356005 | 12:75,601,465 | C/A | — | uncertain significance |
| rs200309151 | 12:75,601,481 | G/T | — | uncertain significance |
| rs779052985 | 12:75,601,499 | C/T | — | uncertain significance |
| rs554496008 | 12:75,601,517 | C/T | — | uncertain significance |
| rs2548169351 | 12:75,601,525 | C/A | — | uncertain significance |
| rs7311122 | 12:75,601,540 | C/A | — | likely benign |
| rs766911910 | 12:75,601,594 | G/A | — | uncertain significance |
| rs146576149 | 12:75,601,665 | G/A | — | benign |
| rs1311113011 | 12:75,601,740 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.