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

Selected Variant

1 paper

NM_000831.4

p.Q189R

c.566A>G

Surrounding Variants

1 paper

NM_000831.4

p.R205C

c.613C>T

2 papers

NM_000831.4

p.R215H

c.644G>A

1 paper

NM_000831.4

p.R223*

c.667C>T

1 paper

NM_000831.4

p.F227Y

c.680T>A

1 paper

NM_000831.4

p.R228C

c.682C>T

1 paper

NM_000831.4

p.C233S

c.697T>A

2 papers

NM_000831.4

p.M246del1

c.736_737delCAT

1 paper

NM_000831.4

p.G249S

c.745G>A

1 paper

NM_000831.4

p.Y254H

c.760T>C

1 paper

NM_000831.4

p.L262L

c.786G>A

1 paper

NM_000831.4

p.R173Q

c.518G>A

1 paper

NM_000831.4

p.L159P

c.476T>C