GRIK1
glutamate ionotropic receptor kainate type subunit 1
Summary
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758995730 | 21:30,909,555 | G/T | — | uncertain significance |
| rs748380852 | 21:30,909,579 | C/A | — | uncertain significance |
| rs986568945 | 21:30,909,624 | T/C | — | uncertain significance |
| rs2186305 | 21:30,916,274 | C/G | — | — |
| rs1601091855 | 21:30,926,007 | C/T | — | uncertain significance |
| rs747440471 | 21:30,926,016 | A/G | — | uncertain significance |
| rs363503 | 21:30,926,024 | G/A | — | benign |
| rs1468020946 | 21:30,926,025 | C/A | — | uncertain significance |
| rs150526885 | 21:30,927,415 | T/A | — | benign |
| rs756570310 | 21:30,927,462 | T/C | — | uncertain significance |
| rs548418279 | 21:30,927,519 | C/T | — | uncertain significance |
| rs1171746300 | 21:30,927,569 | C/T | — | uncertain significance |
| rs9680365 | 21:30,928,732 | G/A | intron variant | — |
| rs1389738147 | 21:30,933,963 | C/T | — | uncertain significance |
| rs964375005 | 21:30,934,012 | T/G | — | uncertain significance |
| rs2516737949 | 21:30,934,049 | A/G | — | uncertain significance |
| rs750903526 | 21:30,934,130 | A/G | — | uncertain significance |
| rs763922363 | 21:30,949,300 | G/A | — | uncertain significance |
| rs376748572 | 21:30,949,308 | A/C | — | uncertain significance |
| rs568601127 | 21:30,949,317 | C/T | — | likely benign |
| rs2516820046 | 21:30,949,319 | C/T | — | uncertain significance |
| rs1601164251 | 21:30,949,332 | C/T | — | likely benign |
| rs774769899 | 21:30,949,360 | G/A | — | uncertain significance |
| rs767533461 | 21:30,949,372 | G/A | — | uncertain significance |
| rs142518822 | 21:30,949,413 | C/T | — | likely benign |
| rs765155699 | 21:30,949,456 | C/T | — | uncertain significance |
| rs2516864513 | 21:30,959,744 | A/G | — | uncertain significance |
| rs146846624 | 21:30,959,759 | G/A | — | likely benign |
| rs952712370 | 21:30,959,789 | T/A | — | uncertain significance |
| rs1228032627 | 21:30,959,839 | G/T | — | uncertain significance |
| rs777331187 | 21:30,961,321 | T/C | — | likely benign |
| rs2061327554 | 21:30,963,482 | T/G | — | uncertain significance |
| rs368238874 | 21:30,963,508 | G/A | — | uncertain significance |
| rs1486047248 | 21:30,963,513 | G/A | — | likely benign |
| rs1601201038 | 21:30,963,523 | C/T | — | uncertain significance |
| rs2832407 | 21:30,967,508 | C/T | — | — |
| rs116188011 | 21:30,968,843 | A/T | — | benign |
| rs1840165081 | 21:30,971,176 | T/G | — | uncertain significance |
| rs1601225222 | 21:30,971,195 | A/G | — | likely benign |
| rs199860674 | 21:30,971,200 | T/C | — | uncertain significance |
| rs372225729 | 21:30,971,204 | C/G | — | uncertain significance |
| rs363598 | 21:31,013,159 | T/A | — | — |
| rs778670408 | 21:31,015,181 | G/A | — | uncertain significance |
| rs2517155024 | 21:31,015,193 | G/T | — | uncertain significance |
| rs544230882 | 21:31,015,235 | G/A | — | uncertain significance |
| rs373016584 | 21:31,015,240 | G/A | — | uncertain significance |
| rs1441082338 | 21:31,015,257 | G/A | — | likely benign |
| rs140989294 | 21:31,015,268 | C/T | — | uncertain significance |
| rs780322333 | 21:31,023,467 | C/T | — | uncertain significance |
| rs148983818 | 21:31,023,468 | G/A | — | likely benign |
| rs142866181 | 21:31,023,480 | G/A | — | benign |
| rs2062727547 | 21:31,023,481 | G/T | — | uncertain significance |
| rs199910569 | 21:31,023,524 | C/T | — | uncertain significance |
| rs767098041 | 21:31,023,530 | G/T | — | uncertain significance |
| rs1239392495 | 21:31,023,583 | T/C | — | uncertain significance |
| rs750159587 | 21:31,045,356 | A/T | — | uncertain significance |
| rs761892509 | 21:31,045,421 | C/T | — | uncertain significance |
| rs1211438411 | 21:31,045,467 | C/T | — | uncertain significance |
| rs777528983 | 21:31,045,475 | C/T | — | uncertain significance |
| rs144855573 | 21:31,045,482 | G/A | — | benign |
| rs363512 | 21:31,050,817 | G/A | intron variant | — |
| rs726002 | 21:31,051,293 | G/A | intron variant | — |
| rs749461889 | 21:31,062,055 | G/T | — | uncertain significance |
| rs201060192 | 21:31,062,096 | G/A | — | uncertain significance |
| rs372139608 | 21:31,062,110 | A/C | — | uncertain significance |
| rs771961861 | 21:31,062,159 | A/C | — | uncertain significance |
| rs540218643 | 21:31,062,166 | G/T | — | uncertain significance |
| rs761334857 | 21:31,062,178 | G/C | — | likely benign |
| rs750056676 | 21:31,062,191 | C/T | — | uncertain significance |
| rs142436130 | 21:31,062,246 | C/T | — | uncertain significance |
| rs2517403274 | 21:31,066,275 | T/C | — | uncertain significance |
| rs1413824435 | 21:31,066,295 | C/A | — | uncertain significance |
| rs933117 | 21:31,100,797 | G/A | intron variant | — |
| rs455804 | 21:31,146,169 | A/C | intron variant | — |
| rs458685 | 21:31,177,511 | A/G | regulatory region variant | — |
| rs118166925 | 21:31,234,678 | C/T | intron variant | — |
| rs457352 | 21:31,244,478 | C/T | intron variant | — |
| rs756292525 | 21:31,311,769 | G/A | — | uncertain significance |
| rs2071899396 | 21:31,311,776 | T/A | — | uncertain significance |
| rs772575613 | 21:31,311,792 | C/G | — | uncertain significance |
| rs150042928 | 21:31,311,799 | A/G | — | uncertain significance |
| rs765040687 | 21:31,311,809 | C/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.