KCNH7
potassium voltage-gated channel subfamily H member 7
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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1402886271 | 2:163,228,353 | G/T | — | uncertain significance |
| rs142210415 | 2:163,228,443 | C/T | — | uncertain significance |
| rs940951599 | 2:163,228,556 | G/A | — | uncertain significance |
| rs745510969 | 2:163,230,026 | G/A | — | uncertain significance |
| rs780962569 | 2:163,230,054 | T/C | — | likely benign |
| rs2105402372 | 2:163,236,445 | A/C | — | uncertain significance |
| rs148938064 | 2:163,236,451 | C/T | — | uncertain significance |
| rs1573892185 | 2:163,236,474 | G/C | — | uncertain significance |
| rs765637882 | 2:163,236,504 | C/T | — | uncertain significance |
| rs2068330 | 2:163,237,390 | C/G | intron variant | — |
| rs141527251 | 2:163,241,247 | C/G | — | likely benign |
| rs183477423 | 2:163,241,275 | G/T | — | uncertain significance |
| rs6757850 | 2:163,241,287 | C/G | — | benign |
| rs375210957 | 2:163,241,319 | C/T | — | likely benign |
| rs1302579889 | 2:163,241,348 | T/C | — | uncertain significance |
| rs143881602 | 2:163,250,969 | C/T | — | benign |
| rs375588527 | 2:163,250,982 | C/T | — | uncertain significance |
| rs17783977 | 2:163,250,987 | G/A | — | benign |
| rs372132270 | 2:163,250,995 | C/A | — | uncertain significance |
| rs371887416 | 2:163,253,257 | C/T | — | uncertain significance |
| rs758595045 | 2:163,253,264 | G/T | — | uncertain significance |
| rs139707486 | 2:163,253,323 | A/T | — | uncertain significance |
| rs756713019 | 2:163,256,812 | T/C | — | uncertain significance |
| rs1045380146 | 2:163,256,894 | T/C | — | uncertain significance |
| rs371886389 | 2:163,256,904 | A/T | — | uncertain significance |
| rs17716942 | 2:163,260,691 | T/C | regulatory region variant | — |
| rs2468310322 | 2:163,279,976 | C/T | — | uncertain significance |
| rs12104705 | 2:163,291,617 | C/T | intron variant | — |
| rs138092215 | 2:163,291,820 | G/A | — | likely benign |
| rs200359779 | 2:163,291,857 | C/T | — | uncertain significance |
| rs765007494 | 2:163,291,906 | C/T | — | likely benign |
| rs142697442 | 2:163,302,558 | G/A | — | likely benign |
| rs369243466 | 2:163,302,626 | C/T | — | uncertain significance |
| rs2468363604 | 2:163,302,633 | A/T | — | uncertain significance |
| rs140040445 | 2:163,302,886 | G/A | — | uncertain significance |
| rs78247304 | 2:163,302,901 | C/T | — | uncertain significance |
| rs1404227109 | 2:163,302,902 | G/A | — | uncertain significance |
| rs199742422 | 2:163,360,979 | G/T | — | uncertain significance |
| rs781215953 | 2:163,360,996 | T/C | — | likely benign |
| rs151139318 | 2:163,361,057 | C/A | — | uncertain significance |
| rs2468523672 | 2:163,361,071 | A/G | — | uncertain significance |
| rs1574038842 | 2:163,361,073 | A/G | — | likely benign |
| rs376815198 | 2:163,361,155 | T/C | — | uncertain significance |
| rs41268653 | 2:163,361,158 | T/A | — | benign |
| rs746682197 | 2:163,374,244 | G/A | — | likely benign |
| rs780739285 | 2:163,374,394 | T/A | — | likely benign |
| rs148927325 | 2:163,374,436 | G/A | — | benign |
| rs760610195 | 2:163,374,449 | A/C | — | uncertain significance |
| rs951718201 | 2:163,374,485 | G/T | — | uncertain significance |
| rs1691380904 | 2:163,374,642 | C/A | — | uncertain significance |
| rs900915373 | 2:163,393,447 | T/C | — | uncertain significance |
| rs12614955 | 2:163,649,480 | C/A | — | — |
| rs201832671 | 2:163,693,079 | C/T | — | uncertain significance |
| rs2468308428 | 2:163,693,121 | T/G | — | uncertain significance |
| rs2468314372 | 2:163,694,966 | T/G | — | uncertain significance |
| rs760525559 | 2:163,694,977 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.