GRID2

glutamate ionotropic receptor delta type subunit 2

Summary

The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]

Known Variants201 total

rsidPosition (GRCh37)AllelesClassClinVar
rs796938114:93,225,491C/T—benign
rs25305879864:93,225,746C/T—uncertain significance
rs25305886314:93,225,828C/T—likely benign
rs17252850294:93,225,847T/A—uncertain significance
rs15605568924:93,225,860G/A—likely pathogenic
rs1467890504:93,225,869C/T—uncertain significance
rs7718762484:93,225,882G/C—likely benign
rs17252867774:93,225,891C/T—likely benign
rs776191354:93,225,894C/T—benign
rs1144321164:93,225,925A/T—likely benign
rs623109904:93,226,074C/G—benign
rs76668314:93,321,027C/Tintron variant—
rs623100974:93,499,316C/A——
rs3716143614:93,511,271C/T—likely benign
rs747596374:93,511,278C/T—likely benign
rs12560398694:93,511,289T/G—uncertain significance
rs7679760034:93,511,294A/G—uncertain significance
rs7664704834:93,511,310G/T—uncertain significance
rs17286405354:93,511,314G/T—uncertain significance
rs7541109024:93,511,326C/T—uncertain significance
rs1456061764:93,511,370G/A—likely benign
rs341443244:93,511,396C/Tmissense variantlikely benign
rs5598955234:93,511,397G/A—likely benign
rs3688896184:93,511,405A/C—uncertain significance
rs28706394:93,511,481G/A—benign
rs41428744:93,511,550G/C—benign
rs10307574:93,697,153C/Aintron variant—
rs1490669544:93,963,776C/G——
rs770680424:94,005,870C/G—benign
rs7629737304:94,006,161A/G—uncertain significance
rs15789445644:94,006,174G/A—likely benign
rs2022038964:94,006,191T/C—conflicting classifications of pathogenicity
rs2004909344:94,006,200C/T—uncertain significance
rs1156646264:94,006,201G/A—benign
rs2022284234:94,006,210A/G—likely benign
rs7744597644:94,006,232G/A—uncertain significance
rs25303573374:94,006,235A/G—uncertain significance
rs7674462964:94,006,256A/G—uncertain significance
rs14638941084:94,006,288T/G—uncertain significance
rs7689035714:94,006,315G/A—likely benign
rs3769992604:94,006,318T/C—likely benign
rs7771562504:94,006,384A/T—benign
rs1482389004:94,006,416A/G—uncertain significance
rs12852722944:94,006,418G/C—uncertain significance
rs7730783474:94,006,430G/A—uncertain significance
rs5297399264:94,006,440T/C—benign
rs3713086134:94,031,927C/T—likely benign
rs17326871744:94,031,937C/T—pathogenic
rs617450724:94,031,946A/G—benign
rs1924503534:94,031,956C/A—uncertain significance
rs1399882034:94,031,981C/G—uncertain significance
rs5402160224:94,031,983A/G—uncertain significance
rs7612503174:94,032,023A/G—likely benign
rs14767394504:94,032,030A/C—uncertain significance
rs25305076204:94,032,037A/G—uncertain significance
rs3681436654:94,032,040G/A—likely pathogenic
rs12325561874:94,032,055G/A—uncertain significance
rs22713854:94,032,125G/C—benign
rs38570634:94,032,300T/C—benign
rs11606854:94,052,854C/A——
rs15032124:94,075,844T/Aintron variant—
rs100049944:94,128,306C/T—benign
rs7621005384:94,128,560G/A—conflicting classifications of pathogenicity
rs5343326844:94,128,597A/G—likely benign
rs1997747664:94,137,876T/C—benign
rs7550743434:94,137,897C/T—likely benign
rs7651194594:94,137,898G/A—uncertain significance
rs12683494404:94,137,905A/T—uncertain significance
rs1475437914:94,137,907G/A—uncertain significance
rs752252114:94,137,954A/G—likely benign
rs1913657344:94,137,975G/C—uncertain significance
rs13821194554:94,137,987G/C—uncertain significance
rs2016358184:94,137,998G/A—uncertain significance
rs15793193004:94,138,009C/T—likely pathogenic
rs5385732744:94,138,049C/T—conflicting classifications of pathogenicity
rs170202654:94,138,172A/G—likely benign
rs68487204:94,138,242A/T—benign
rs7629758984:94,145,755G/A—likely benign
rs1500533324:94,145,779C/T—likely benign
rs3718854004:94,145,795C/T—uncertain significance
rs7461796034:94,145,878C/A—uncertain significance
rs5443603354:94,145,900C/T—uncertain significance
rs5752249504:94,145,901G/A—uncertain significance
rs25311402664:94,145,908G/A—uncertain significance
rs25311405604:94,145,934C/T—likely benign
rs37966754:94,146,093A/G—benign
rs18757064:94,146,232G/A—benign
rs726669424:94,159,462G/A—benign
rs755764754:94,159,530T/C—likely benign
rs3713043964:94,159,536G/A—likely benign
rs10853076594:94,159,574A/G—uncertain significance
rs800910804:94,159,599T/C—benign
rs12753895404:94,159,622T/C—uncertain significance
rs5688453384:94,159,637G/A—uncertain significance
rs7812108644:94,159,651G/A—likely benign
rs170202864:94,159,658C/T—benign
rs131426154:94,159,770A/G—benign
rs611454844:94,159,840C/G—benign
rs728727274:94,159,851G/T—benign
rs5285898034:94,316,752T/G—likely benign

Showing 100 of 201 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.