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.I739I

c.2217C>T

Surrounding Variants

1 paper

NM_002088.5

p.Q738R

c.2213A>G

1 paper

NM_002088.5

p.E727D

c.2181A>T

1 paper

NM_002088.5

p.E727D

c.2181A>C

1 paper

NM_002088.5

p.M725T

c.2174T>C

1 paper

NM_002088.5

p.E722D

c.2166G>T

1 paper

NM_002088.5

p.E722D

c.2166G>C

1 paper

NM_002088.5

p.E722G

c.2165A>G

1 paper

NM_002088.5

p.F719Y

c.2156T>A

1 paper

NM_002088.5

p.T705K

c.2114C>A

1 paper

NM_002088.5

p.V702F

c.2104G>T

1 paper

NM_002088.5

p.V700L

c.2098G>T

1 paper

NM_002088.5

p.R688H

c.2063G>A