Varaico: Literature-Extracted Genetic Variants

GRIK2

299 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 52–397UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 431–546UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 560–831UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 2

HGNC Previous Symbol

GLUR6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_021956.5

p.E738D

c.2214G>C

Surrounding Variants

6 papers

NM_021956.5

p.E738D

c.2214G>T

1 paper

NM_021956.5

p.E738A

c.2213A>C

5 papers

NM_021956.5

p.E738G

c.2213A>G

1 paper

NM_021956.5

p.E738K

c.2212G>A

1 paper

NM_021956.5

p.M737L

c.2209A>C

1 paper

NM_021956.5

p.M737L

c.2209A>T

1 paper

NM_021956.5

p.Y733F

c.2198A>T

1 paper

NM_021956.5

p.S731T

c.2191T>A

1 paper

NM_021956.5

p.T730S

c.2189C>G

1 paper

NM_021956.5

p.T730S

c.2188A>T

1 paper

NM_021956.5

p.L729fs

c.2185_2186fs

1 paper

NM_021956.5

p.V728delFs

c.2184delC