GRIA1
glutamate ionotropic receptor AMPA 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. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants144 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs548294 | 5:152,868,437 | T/C | upstream gene variant | — |
| rs150205263 | 5:152,870,529 | C/A | — | likely benign |
| rs188180606 | 5:152,870,865 | G/T | — | likely benign |
| rs2195450 | 5:152,871,009 | G/A | upstream gene variant | — |
| rs3811982 | 5:152,871,804 | G/A | — | likely benign |
| rs539837953 | 5:152,871,835 | G/T | — | benign |
| rs2532310898 | 5:152,871,869 | G/A | — | uncertain significance |
| rs780495356 | 5:152,873,545 | C/T | — | uncertain significance |
| rs2532320830 | 5:152,873,562 | C/T | — | uncertain significance |
| rs144700432 | 5:152,873,601 | G/A | — | uncertain significance |
| rs2532321312 | 5:152,873,615 | G/A | — | uncertain significance |
| rs10065813 | 5:152,940,405 | C/T | intron variant | — |
| rs12658202 | 5:152,979,554 | C/T | — | — |
| rs1994862 | 5:152,988,910 | C/G | intron variant | — |
| rs139047509 | 5:153,026,507 | A/G | — | likely benign |
| rs1434259155 | 5:153,026,511 | G/C | — | uncertain significance |
| rs2480043870 | 5:153,026,515 | A/C | — | uncertain significance |
| rs765944099 | 5:153,026,516 | T/C | — | likely benign |
| rs138393870 | 5:153,026,522 | C/G | — | uncertain significance |
| rs2149453376 | 5:153,026,536 | A/C | — | uncertain significance |
| rs140735929 | 5:153,026,538 | C/T | — | likely benign |
| rs771059423 | 5:153,026,539 | G/A | — | uncertain significance |
| rs1404893868 | 5:153,026,599 | C/T | — | uncertain significance |
| rs1161670457 | 5:153,026,608 | C/T | — | uncertain significance |
| rs149549228 | 5:153,026,644 | G/T | — | likely pathogenic |
| rs2480045540 | 5:153,026,657 | G/T | — | uncertain significance |
| rs2149453702 | 5:153,026,719 | C/G | — | uncertain significance |
| rs770604772 | 5:153,026,725 | G/A | — | uncertain significance |
| rs756053811 | 5:153,029,897 | C/T | — | likely benign |
| rs371725726 | 5:153,029,898 | G/A | — | likely benign |
| rs707176 | 5:153,029,960 | T/C | — | benign |
| rs1317413376 | 5:153,030,007 | A/G | — | uncertain significance |
| rs1437444606 | 5:153,030,009 | A/G | — | uncertain significance |
| rs766140803 | 5:153,030,021 | C/T | — | likely benign |
| rs2149458073 | 5:153,030,030 | G/A | — | uncertain significance |
| rs1284783625 | 5:153,030,046 | C/T | — | uncertain significance |
| rs146865938 | 5:153,030,051 | C/T | — | likely benign |
| rs148008926 | 5:153,030,052 | G/C | — | benign |
| rs763205623 | 5:153,035,406 | G/A | — | uncertain significance |
| rs375127385 | 5:153,054,051 | C/T | — | likely benign |
| rs142807233 | 5:153,054,074 | T/C | — | benign |
| rs1381962865 | 5:153,054,100 | G/A | — | uncertain significance |
| rs150626993 | 5:153,054,101 | C/A | — | benign |
| rs201229312 | 5:153,054,102 | G/T | — | uncertain significance |
| rs774481545 | 5:153,054,106 | A/G | — | likely benign |
| rs149860835 | 5:153,054,148 | C/T | — | uncertain significance |
| rs2480234606 | 5:153,054,166 | A/C | — | uncertain significance |
| rs781430243 | 5:153,054,176 | T/C | — | likely benign |
| rs1443221072 | 5:153,054,180 | G/C | — | uncertain significance |
| rs1235828717 | 5:153,054,186 | C/G | — | uncertain significance |
| rs140674411 | 5:153,054,203 | G/A | — | likely benign |
| rs2480235236 | 5:153,054,208 | G/A | — | likely pathogenic |
| rs368839980 | 5:153,056,548 | C/T | — | likely benign |
| rs746887407 | 5:153,056,549 | A/G | — | uncertain significance |
| rs533521208 | 5:153,056,557 | A/G | — | uncertain significance |
| rs200078037 | 5:153,056,562 | T/C | — | likely benign |
| rs114632468 | 5:153,056,574 | C/T | — | benign |
| rs760982517 | 5:153,056,615 | G/A | — | uncertain significance |
| rs1370479117 | 5:153,056,624 | G/A | — | likely benign |
| rs1260058598 | 5:153,056,644 | G/C | — | uncertain significance |
| rs146697277 | 5:153,056,646 | G/C | — | likely benign |
| rs774584155 | 5:153,056,678 | T/C | — | likely benign |
| rs2480254366 | 5:153,056,681 | C/T | — | uncertain significance |
| rs2480254444 | 5:153,056,684 | G/A | — | uncertain significance |
| rs2480254487 | 5:153,056,686 | G/A | — | uncertain significance |
| rs12189362 | 5:153,057,548 | C/T | intron variant | — |
| rs142859488 | 5:153,065,789 | G/A | — | uncertain significance |
| rs77292199 | 5:153,065,811 | C/T | — | benign |
| rs143445023 | 5:153,065,834 | G/A | — | uncertain significance |
| rs2480321317 | 5:153,065,842 | A/T | — | uncertain significance |
| rs140876127 | 5:153,065,877 | C/T | — | likely benign |
| rs1173036683 | 5:153,065,884 | C/T | — | pathogenic |
| rs545946719 | 5:153,065,885 | G/A | — | uncertain significance |
| rs2480412031 | 5:153,077,597 | T/C | — | uncertain significance |
| rs1292697012 | 5:153,077,626 | A/G | — | uncertain significance |
| rs770450225 | 5:153,077,641 | C/T | — | uncertain significance |
| rs369807568 | 5:153,077,652 | G/A | — | uncertain significance |
| rs116607755 | 5:153,077,654 | C/T | — | benign |
| rs764951842 | 5:153,077,684 | G/C | — | uncertain significance |
| rs538137047 | 5:153,077,689 | G/A | — | uncertain significance |
| rs2480420769 | 5:153,078,422 | T/C | — | uncertain significance |
| rs764535889 | 5:153,078,445 | C/A | — | uncertain significance |
| rs371219596 | 5:153,078,460 | A/C | — | uncertain significance |
| rs1347233128 | 5:153,078,509 | C/T | — | uncertain significance |
| rs6875572 | 5:153,078,510 | G/A | — | benign |
| rs2480422130 | 5:153,078,529 | G/T | — | uncertain significance |
| rs1250825059 | 5:153,078,593 | C/T | — | uncertain significance |
| rs765587931 | 5:153,078,625 | G/T | — | likely benign |
| rs149493618 | 5:153,085,253 | T/C | — | likely benign |
| rs2480475153 | 5:153,085,291 | C/T | — | uncertain significance |
| rs1758846316 | 5:153,085,300 | G/A | — | uncertain significance |
| rs2149520942 | 5:153,085,327 | C/A | — | likely pathogenic |
| rs1435095170 | 5:153,085,342 | G/A | — | likely pathogenic |
| rs2480475703 | 5:153,085,359 | A/G | — | uncertain significance |
| rs1758859643 | 5:153,085,491 | T/G | — | uncertain significance |
| rs2480477719 | 5:153,085,531 | A/G | — | uncertain significance |
| rs2480478251 | 5:153,085,573 | G/C | — | uncertain significance |
| rs10038916 | 5:153,098,094 | G/C | — | — |
| rs12517168 | 5:153,099,017 | G/A | intron variant | — |
| rs11743471 | 5:153,099,883 | C/T | intron variant | — |
Showing 100 of 144 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.