KCNN4
potassium calcium-activated channel subfamily N member 4
Summary
The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
Known Variants94 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151242973 | 19:44,270,225 | C/T | regulatory region variant | — |
| rs1969515944 | 19:44,271,707 | C/A | — | uncertain significance |
| rs758684348 | 19:44,271,733 | G/A | — | uncertain significance |
| rs201257292 | 19:44,271,786 | G/A | — | uncertain significance |
| rs199835479 | 19:44,271,810 | C/T | — | conflicting classifications of pathogenicity |
| rs1466617448 | 19:44,271,820 | T/G | — | uncertain significance |
| rs139282634 | 19:44,271,875 | G/A | — | likely benign |
| rs73565098 | 19:44,271,935 | A/G | — | benign |
| rs3786954 | 19:44,272,346 | A/C | — | — |
| rs774455945 | 19:44,273,179 | C/T | missense variant | pathogenic |
| rs347519 | 19:44,273,516 | T/C | intron variant | benign |
| rs775470701 | 19:44,273,604 | C/T | — | uncertain significance |
| rs144044337 | 19:44,273,605 | G/A | — | likely benign |
| rs76935412 | 19:44,273,625 | G/T | — | conflicting classifications of pathogenicity |
| rs141341073 | 19:44,273,636 | G/A | — | uncertain significance |
| rs750898631 | 19:44,273,653 | G/A | — | likely benign |
| rs748400448 | 19:44,273,673 | T/C | — | uncertain significance |
| rs146286980 | 19:44,273,693 | C/T | — | uncertain significance |
| rs115217995 | 19:44,273,701 | G/A | — | likely benign |
| rs1969582489 | 19:44,273,703 | A/G | — | pathogenic |
| rs776190201 | 19:44,273,873 | C/T | — | uncertain significance |
| rs934197634 | 19:44,273,883 | C/T | — | likely benign |
| rs1389720019 | 19:44,273,897 | T/A | — | uncertain significance |
| rs968674510 | 19:44,273,909 | C/A | — | uncertain significance |
| rs758081705 | 19:44,273,947 | A/C | — | uncertain significance |
| rs202092056 | 19:44,273,951 | C/T | — | uncertain significance |
| rs1057519077 | 19:44,273,956 | A/T | missense variant | pathogenic |
| rs1057519076 | 19:44,273,957 | C/T | missense variant | pathogenic |
| rs1200218524 | 19:44,273,962 | A/T | — | uncertain significance |
| rs200467362 | 19:44,273,997 | G/A | — | likely benign |
| rs2306799 | 19:44,274,041 | G/A | intron variant | benign |
| rs347520 | 19:44,274,132 | C/T | — | benign |
| rs4802198 | 19:44,275,900 | T/C | — | benign |
| rs2513971860 | 19:44,276,181 | T/G | — | uncertain significance |
| rs1969657994 | 19:44,276,184 | C/T | — | uncertain significance |
| rs201430049 | 19:44,276,205 | C/T | — | uncertain significance |
| rs3760979 | 19:44,276,370 | A/G | — | benign |
| rs3760980 | 19:44,276,513 | T/A | — | benign |
| rs10414366 | 19:44,276,587 | G/A | — | benign |
| rs10415593 | 19:44,276,628 | T/C | — | — |
| rs148552712 | 19:44,278,011 | C/G | — | benign |
| rs142924745 | 19:44,278,102 | T/A | regulatory region variant | — |
| rs202081773 | 19:44,278,391 | C/T | — | likely benign |
| rs2513975427 | 19:44,278,416 | G/C | — | uncertain significance |
| rs200483738 | 19:44,278,487 | G/C | — | benign |
| rs139516899 | 19:44,278,508 | G/A | — | benign |
| rs551228061 | 19:44,278,523 | G/A | — | benign |
| rs1254533339 | 19:44,278,569 | G/A | — | uncertain significance |
| rs557803591 | 19:44,278,580 | T/G | — | conflicting classifications of pathogenicity |
| rs1969736211 | 19:44,278,582 | C/T | — | uncertain significance |
| rs752949336 | 19:44,278,636 | A/T | — | uncertain significance |
| rs200491983 | 19:44,278,687 | C/A | — | uncertain significance |
| rs1311187081 | 19:44,278,693 | G/A | — | likely benign |
| rs757829256 | 19:44,278,723 | C/A | — | uncertain significance |
| rs1023046604 | 19:44,278,738 | G/T | — | uncertain significance |
| rs747284188 | 19:44,278,753 | C/A | — | uncertain significance |
| rs201220075 | 19:44,278,764 | A/C | — | conflicting classifications of pathogenicity |
| rs774352151 | 19:44,278,776 | C/T | — | uncertain significance |
| rs649540 | 19:44,278,779 | T/G | — | benign |
| rs563995 | 19:44,278,781 | G/A | — | benign |
| rs2306801 | 19:44,280,478 | G/A | regulatory region variant | benign |
| rs1207132 | 19:44,280,509 | G/T | — | benign |
| rs185106588 | 19:44,280,705 | G/A | — | benign |
| rs2513981153 | 19:44,280,710 | G/A | — | uncertain significance |
| rs201694270 | 19:44,280,715 | G/A | — | uncertain significance |
| rs78552213 | 19:44,280,719 | C/T | — | likely benign |
| rs144902329 | 19:44,280,720 | G/C | — | uncertain significance |
| rs750863124 | 19:44,280,735 | T/A | — | uncertain significance |
| rs199820891 | 19:44,280,757 | G/A | — | likely benign |
| rs778812990 | 19:44,280,783 | C/T | — | likely benign |
| rs111452808 | 19:44,280,803 | G/A | — | benign |
| rs514328 | 19:44,280,837 | G/A | — | benign |
| rs35773079 | 19:44,280,980 | G/T | — | benign |
| rs670950 | 19:44,281,562 | T/G | — | — |
| rs56344893 | 19:44,282,529 | C/T | — | — |
| rs56681946 | 19:44,283,031 | C/T | — | benign |
| rs73048670 | 19:44,284,531 | C/T | regulatory region variant | — |
| rs112533386 | 19:44,284,648 | T/C | — | benign |
| rs779928751 | 19:44,284,855 | C/T | — | uncertain significance |
| rs200169896 | 19:44,284,864 | C/T | — | likely benign |
| rs529853437 | 19:44,284,867 | G/A | — | likely benign |
| rs140996418 | 19:44,284,965 | G/A | — | uncertain significance |
| rs559217599 | 19:44,284,970 | C/T | — | uncertain significance |
| rs754962198 | 19:44,284,971 | G/C | — | uncertain significance |
| rs201622697 | 19:44,284,974 | G/A | — | conflicting classifications of pathogenicity |
| rs777432100 | 19:44,284,978 | C/G | — | uncertain significance |
| rs1291887833 | 19:44,284,983 | C/T | — | uncertain significance |
| rs201687359 | 19:44,284,994 | A/G | — | conflicting classifications of pathogenicity |
| rs772653108 | 19:44,285,006 | C/T | — | uncertain significance |
| rs2513990232 | 19:44,285,010 | C/T | — | uncertain significance |
| rs77115443 | 19:44,285,378 | C/A | — | benign |
| rs3760982 | 19:44,286,513 | A/G | regulatory region variant | — |
| rs547547784 | 19:44,286,583 | C/G | — | — |
| rs568351945 | 19:44,286,857 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.