GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A

Summary

This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants1,677 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5834043216:9,847,314T/C—benign
rs11459680216:9,847,374A/T—benign
rs1696624216:9,847,489A/G—benign
rs96708748716:9,847,525A/T—uncertain significance
rs97021779816:9,847,614A/G—uncertain significance
rs11783622016:9,847,681C/G—benign
rs13900767816:9,847,728G/A—uncertain significance
rs190026143416:9,847,751G/C—uncertain significance
rs88605251316:9,847,799C/T—uncertain significance
rs7981849616:9,848,028C/G—benign
rs88605251416:9,848,225C/T—uncertain significance
rs18217452216:9,848,253A/G—benign
rs57146710116:9,848,292A/G—benign
rs88605251516:9,848,380C/G—uncertain significance
rs76031372116:9,848,397G/A—uncertain significance
rs88605251616:9,848,464A/G—uncertain significance
rs76774916:9,848,471T/G—benign
rs88605251716:9,848,608C/T—conflicting classifications of pathogenicity
rs19254867116:9,848,610A/G—benign
rs88605251816:9,848,647A/G—uncertain significance
rs88605251916:9,848,850T/C—uncertain significance
rs1696624316:9,848,929A/C—benign
rs91802134316:9,848,955T/G—uncertain significance
rs76645538716:9,849,024T/G—uncertain significance
rs137899005316:9,849,100T/C—uncertain significance
rs53039812916:9,849,108T/C—uncertain significance
rs88605252016:9,849,109G/A—uncertain significance
rs88605252116:9,849,231G/A—uncertain significance
rs55100953316:9,849,523G/A—uncertain significance
rs18464215816:9,849,581A/T—benign
rs88605252216:9,849,627T/C—uncertain significance
rs19136603516:9,849,657G/A—benign
rs14240741516:9,849,680G/A—benign
rs1696624416:9,849,682C/T—benign
rs86837683916:9,849,717A/T—conflicting classifications of pathogenicity
rs88605252416:9,849,728C/A—uncertain significance
rs88605252516:9,849,799C/T—uncertain significance
rs14327414716:9,849,894T/G—uncertain significance
rs14832860516:9,849,917A/G—benign
rs19000632716:9,850,020T/C—uncertain significance
rs18127161716:9,850,065G/A—benign
rs190034358516:9,850,074A/G—uncertain significance
rs1779195316:9,850,100C/A—benign
rs87947829116:9,850,141A/C—uncertain significance
rs56641884016:9,850,160G/A—uncertain significance
rs190034938716:9,850,232A/T—uncertain significance
rs88605252816:9,850,246C/T—uncertain significance
rs142095920416:9,850,256A/G—uncertain significance
rs156726866616:9,850,321C/G—uncertain significance
rs18539931916:9,850,345C/T—uncertain significance
rs88605252916:9,850,347C/T—uncertain significance
rs142004016:9,850,397A/G—benign
rs56565093016:9,850,405C/G—benign
rs88605253016:9,850,407A/G—uncertain significance
rs11530696116:9,850,409C/T—benign
rs37520520616:9,850,410G/A—benign
rs5939470616:9,850,461G/T—benign
rs138011619116:9,850,478T/C—uncertain significance
rs7837751716:9,850,531A/T—benign
rs14310621216:9,850,534C/G—benign
rs7401101916:9,850,554C/T—benign
rs19995005116:9,850,555G/A—benign
rs14014551016:9,850,557C/A—benign
rs14941019316:9,850,562T/C—benign
rs1333955116:9,850,622C/A—benign
rs14843197216:9,850,683G/A—benign
rs1696625216:9,850,724A/T—benign
rs96170360716:9,850,826C/T—uncertain significance
rs88605253116:9,850,828A/G—uncertain significance
rs994068016:9,850,857G/C—benign
rs993362416:9,850,878C/T—benign
rs75153316216:9,850,921C/T—uncertain significance
rs159636827816:9,850,922G/A—uncertain significance
rs78082399916:9,850,964T/G—uncertain significance
rs53231693416:9,850,993A/G—uncertain significance
rs54858899316:9,851,010G/A—benign
rs1696625516:9,851,064C/T—benign
rs804571216:9,851,122C/T—benign
rs804447216:9,851,188A/G—benign
rs7829687216:9,851,230T/A—benign
rs993377216:9,851,231A/T—benign
rs14454598316:9,851,266T/G—benign
rs57420771116:9,851,273G/A—benign
rs992273716:9,851,286G/C—benign
rs134700753316:9,851,313G/T—uncertain significance
rs992281116:9,851,334G/A—benign
rs1333089916:9,851,408C/T—benign
rs14993307016:9,851,494A/G—benign
rs88605253216:9,851,533C/T—uncertain significance
rs88605253316:9,851,535A/G—uncertain significance
rs14573610116:9,851,559C/A—benign
rs57084768416:9,851,583A/G—uncertain significance
rs55415542316:9,851,641C/T—benign
rs145189095216:9,851,758C/T—uncertain significance
rs37685700016:9,851,811T/G—uncertain significance
rs36908321716:9,851,845G/A—uncertain significance
rs55387460216:9,851,894G/A—benign
rs88605253416:9,851,897C/G—uncertain significance
rs18287622016:9,851,930C/G—benign
rs76207355816:9,851,944T/C—uncertain significance

Showing 100 of 1,677 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.