Varaico: Literature-Extracted Genetic Variants

GRIK5

107 papers

RefSeq 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 l...

Pfam Domains

ANF_receptoraa 39–383UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 415–529UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 543–815UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 5

HGNC Alias Symbols

GluK5; KA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002088.5

p.R323C

c.967C>T

Surrounding Variants

1 paper

NM_002088.5

p.V315A

c.944T>C

1 paper

NM_002088.5

p.V313M

c.937G>A

1 paper

NM_002088.5

p.G343A

c.1028G>C

1 paper

NM_002088.5

p.Y349D

c.1045T>G

1 paper

NM_002088.5

p.L350L

c.1048C>T

1 paper

NM_002088.5

p.V353L

c.1057G>T

1 paper

NM_002088.5

p.S366I

c.1097G>T

1 paper

NM_002088.5

p.R376C

c.1126C>T

1 paper

NM_002088.5

p.L378I

c.1132C>A

1 paper

NM_002088.5

p.R395C

c.1183C>T

1 paper

NM_002088.5

p.R395H

c.1184G>A

1 paper

NM_002088.5

p.L397M

c.1189C>A