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

1–12 of 115 variants

3 papers

NM_002088.5

p.S104P

c.310T>C

3 papers

NM_002088.5

p.R323C

c.967C>T

2 papers

NM_002088.5

p.R582H

c.1745G>A

2 papers

NM_002088.5

p.R759Q

c.2276G>A

2 papers

NM_002088.5

p.D760E

c.2280T>G

2 papers

NM_002088.5

p.D760E

c.2280T>A

1 paper

NM_002088.5

p.A14G

c.41C>G

1 paper

NM_002088.5

p.R25H

c.74G>A

1 paper

NM_002088.5

p.A27Splc

c.80-1G>A

1 paper

NM_002088.5

p.V35V

c.105G>A

1 paper

NM_002088.5

p.A45T

c.133G>A

1 paper

NM_002088.5

p.T78A

c.232A>G