Varaico: Literature-Extracted Genetic Variants

GRIK3

180 papers

RefSeq Summary

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to t...

Pfam Domains

ANF_receptoraa 55–400UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 434–548UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 562–832UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 3

HGNC Alias Symbols

GluK3; GLUR7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 152 variants

31 papers

NM_000831.4

p.S310A

c.928T>G

4 papers

NM_000831.4

p.G360S

c.1078G>A

3 papers

NM_000831.4

p.R361H

c.1082G>A

3 papers

NM_000831.4

p.R450W

c.1348C>T

3 papers

NM_000831.4

p.R636C

c.1906C>T

3 papers

NM_000831.4

p.I637T

c.1910T>C

2 papers

NM_000831.4

p.S29L

c.86C>T

2 papers

NM_000831.4

p.R215H

c.644G>A

2 papers

NM_000831.4

p.M246del1

c.736_737delCAT

2 papers

NM_000831.4

p.S310P

c.928T>C

2 papers

NM_000831.4

p.V330I

c.988G>A

2 papers

NM_000831.4

p.R357H

c.1070G>A