GRIK5

glutamate ionotropic receptor kainate type subunit 5

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants69 total

rsidPosition (GRCh37)AllelesClassClinVar
rs139622364619:42,503,032C/A—uncertain significance
rs117954639319:42,503,045C/T—uncertain significance
rs143291559219:42,503,136C/T—uncertain significance
rs251411500419:42,503,141A/C—uncertain significance
rs251411504719:42,503,150A/C—uncertain significance
rs251411507319:42,503,157G/C—uncertain significance
rs118576588119:42,503,189G/T—uncertain significance
rs251411527419:42,503,196G/A—uncertain significance
rs78242441819:42,503,260C/A—likely benign
rs54163778519:42,503,378C/G—uncertain significance
rs119386138319:42,503,401G/C—uncertain significance
rs96313958119:42,503,445C/G—uncertain significance
rs20023522219:42,506,576C/T—likely benign
rs78213009919:42,506,600G/C—likely benign
rs15059520619:42,507,503C/A—benign
rs155587163819:42,507,740G/A—uncertain significance
rs78186922519:42,507,745C/T—uncertain significance
rs78254433819:42,507,746C/G—uncertain significance
rs14619810019:42,507,803T/C—uncertain significance
rs19980861219:42,509,866G/A—likely benign
rs207548152219:42,509,898C/T—uncertain significance
rs54330239719:42,510,004C/T—uncertain significance
rs13812156619:42,510,062G/A—benign
rs36872276919:42,510,824G/A—likely benign
rs14018100319:42,513,317C/Tintron variant—
rs809993919:42,521,108T/Gintron variant—
rs725010819:42,524,139G/A——
rs77813496219:42,525,487G/C—uncertain significance
rs76392304719:42,525,580G/A—uncertain significance
rs14231743419:42,525,582G/A—likely benign
rs251427007119:42,546,751C/T—uncertain significance
rs77686251119:42,546,783C/T—uncertain significance
rs251427030419:42,546,784G/A—uncertain significance
rs75580818819:42,546,801C/T—uncertain significance
rs77131682819:42,557,803T/C—uncertain significance
rs14189887919:42,557,856C/T—likely benign
rs251431737719:42,557,861T/C—uncertain significance
rs14658597119:42,558,474T/C—likely benign
rs14098133419:42,558,502G/A—likely benign
rs251432241219:42,558,563T/C—uncertain significance
rs373610919:42,558,629G/A—benign
rs56009633619:42,560,836G/C—uncertain significance
rs251433410119:42,560,903T/C—uncertain significance
rs19282513819:42,560,935G/A—likely benign
rs251433450919:42,560,960G/A—uncertain significance
rs55731582119:42,561,126G/A—uncertain significance
rs14764940919:42,562,481C/Tintron variant—
rs207622905019:42,563,509G/T—uncertain significance
rs14496126319:42,563,531G/A—likely benign
rs76109582819:42,563,568C/T—uncertain significance
rs36827191819:42,563,598C/T—uncertain significance
rs20046137519:42,566,715C/T—uncertain significance
rs15013883919:42,566,716G/A—likely benign
rs76437538719:42,566,747G/A—uncertain significance
rs14673737119:42,566,748C/T—uncertain significance
rs20174492219:42,566,772G/T—uncertain significance
rs36912746019:42,566,776C/T—likely benign
rs74697282519:42,566,796T/C—uncertain significance
rs14558913619:42,566,936C/A—uncertain significance
rs14946149419:42,566,993G/C—uncertain significance
rs251436008619:42,567,006C/G—uncertain significance
rs77858961319:42,569,383G/A—uncertain significance
rs14305758519:42,569,390C/T—uncertain significance
rs56881869419:42,569,414C/G—uncertain significance
rs76168086019:42,569,453C/T—uncertain significance
rs214618734419:42,569,459T/C—uncertain significance
rs14729523519:42,569,464T/C—uncertain significance
rs37710612619:42,569,504C/T—uncertain significance
rs14306826919:42,569,506C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.