GRIK4

glutamate ionotropic receptor kainate type subunit 4

Pharmacogene

Summary

This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Known Variants85 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54876458911:120,381,582C/T
rs1227874011:120,423,601C/A
rs429747811:120,435,854T/Cregulatory region variant
rs57649631911:120,489,641G/T
rs424504011:120,520,629T/A
rs189390711:120,524,884G/T
rs11148715411:120,531,042G/Tlikely benign
rs75383995211:120,531,044C/Tuncertain significance
rs77032757511:120,531,047C/Tuncertain significance
rs37003122311:120,531,065C/Tuncertain significance
rs20053819611:120,531,073G/Auncertain significance
rs11246742311:120,531,082G/Auncertain significance
rs11609873011:120,531,096C/Gbenign
rs15132128811:120,577,062G/Aintron variant
rs195478711:120,663,363T/Cintron variantbenign
rs13997824311:120,673,443C/Tuncertain significance
rs18471835611:120,673,451C/Tlikely benign
rs37248872011:120,673,482G/Auncertain significance
rs144699319411:120,673,525T/Guncertain significance
rs14757202111:120,673,547G/Abenign
rs3608383611:120,686,124C/Gbenign
rs4129789511:120,690,618C/Gbenign
rs76093032211:120,690,624C/Auncertain significance
rs195343680311:120,702,597T/Guncertain significance
rs249682235211:120,702,651C/Tuncertain significance
rs14321513511:120,702,671C/Tuncertain significance
rs14830891511:120,702,685C/Tlikely benign
rs11277146211:120,702,703C/Tbenign
rs20187696911:120,707,491G/Alikely benign
rs75226128811:120,732,707C/Guncertain significance
rs7719626311:120,732,716A/Gbenign
rs20023361111:120,732,781C/Guncertain significance
rs74715365611:120,732,792A/Guncertain significance
rs249692329511:120,732,824C/Tuncertain significance
rs37344795211:120,744,783G/Alikely benign
rs76782063711:120,744,802G/Tuncertain significance
rs36865376511:120,744,852C/Tlikely benign
rs14841063711:120,744,853G/Auncertain significance
rs19975230211:120,744,856G/Auncertain significance
rs14021611211:120,744,881C/Guncertain significance
rs249698208611:120,744,886A/Guncertain significance
rs11799487611:120,744,897C/Tbenign
rs36883803111:120,744,922C/Tuncertain significance
rs15109157911:120,744,923G/Tuncertain significance
rs11396983711:120,745,910C/Tbenign
rs37267379911:120,745,945T/Cuncertain significance
rs74948582111:120,769,256G/Auncertain significance
rs74592615411:120,769,274A/Guncertain significance
rs14564595611:120,769,333C/Tbenign
rs13798970911:120,776,197G/Auncertain significance
rs1279775511:120,809,460T/C
rs142919051811:120,811,120C/Tuncertain significance
rs77382750111:120,811,135C/Tuncertain significance
rs37453407911:120,811,158C/Tuncertain significance
rs223029811:120,811,161G/Abenign
rs57759427311:120,817,936C/T
rs122032982811:120,823,627C/Tuncertain significance
rs194416229811:120,827,502G/Auncertain significance
rs64405711:120,827,609A/Gbenign
rs74565409511:120,827,611G/Tuncertain significance
rs53451744711:120,827,644G/Amissense variantuncertain significance
rs14600042711:120,827,653G/Auncertain significance
rs133326269111:120,831,653C/Tuncertain significance
rs75412613811:120,831,679G/Auncertain significance
rs13963692911:120,831,733G/Auncertain significance
rs77162386711:120,833,172G/Auncertain significance
rs77972528811:120,833,274A/Guncertain significance
rs74966812011:120,833,397G/Alikely benign
rs1280073411:120,836,754G/Aintron variant
rs75762915911:120,837,900G/Alikely benign
rs20141578011:120,837,936A/Guncertain significance
rs75871200811:120,838,009A/Guncertain significance
rs37705281411:120,852,871G/Auncertain significance
rs998890711:120,852,890T/Cbenign
rs77208393711:120,856,634G/Auncertain significance
rs76234088411:120,856,680C/Tuncertain significance
rs53361961211:120,856,694G/Auncertain significance
rs134634308911:120,856,696C/Tlikely benign
rs99840410811:120,856,713G/Auncertain significance
rs249741949011:120,856,765C/Guncertain significance
rs76437698411:120,856,777C/Tlikely benign
rs249741979611:120,856,782C/Auncertain significance
rs249742104111:120,856,875G/Tuncertain significance
rs76812935611:120,856,899G/Tuncertain significance
rs159136121711:120,856,907C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.