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

1 paper

NM_002088.5

p.A14G

c.41C>G

Surrounding Variants

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

1 paper

NM_002088.5

p.T81S

c.242C>G

1 paper

NM_002088.5

p.L86F

c.258A>T

1 paper

NM_002088.5

p.L86F

c.258A>C

3 papers

NM_002088.5

p.S104P

c.310T>C

1 paper

NM_002088.5

p.R132H

c.395G>A

1 paper

NM_002088.5

p.A134V

c.401C>T

1 paper

NM_002088.5

p.S137I

c.410G>T