Varaico: Literature-Extracted Genetic Variants

GRIK4

134 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 40–384UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 416–530UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 544–816UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 4

HGNC Alias Symbols

GluK4; KA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014619.5

p.G235R

c.703G>C

Surrounding Variants

1 paper

NM_014619.5

p.G235R

c.703G>A

1 paper

NM_014619.5

p.S238fs

c.712_713fs

1 paper

NM_014619.5

p.Y243F

c.728A>T

1 paper

NM_014619.5

p.T246T

c.738T>A

1 paper

NM_014619.5

p.S222A

c.664T>G

1 paper

NM_014619.5

p.N220N

c.660C>T

2 papers

NM_014619.5

p.R180W

c.538C>T