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

2 papers

NM_002088.5

p.D760E

c.2280T>G

Surrounding Variants

2 papers

NM_002088.5

p.D760E

c.2280T>A

2 papers

NM_002088.5

p.R759Q

c.2276G>A

1 paper

NM_002088.5

p.F758Y

c.2273T>A

1 paper

NM_002088.5

p.T763fs

c.2287_2288fs

1 paper

NM_002088.5

p.E776K

c.2326G>A

1 paper

NM_002088.5

p.R780G

c.2338C>G

1 paper

NM_002088.5

p.R795*

c.2383C>T

1 paper

NM_002088.5

p.R795Q

c.2384G>A

1 paper

NM_002088.5

p.I809V

c.2425A>G

1 paper

NM_002088.5

p.A822V

c.2465C>T

1 paper

NM_002088.5

p.R832M

c.2495G>T

1 paper

NM_002088.5

p.I739I

c.2217C>T