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

2 papers

NM_014619.5

p.A167G

c.500C>G

Surrounding Variants

1 paper

NM_014619.5

p.A162V

c.485C>T

1 paper

NM_014619.5

p.A149T

c.445G>A

2 papers

NM_014619.5

p.L137Q

c.410T>A

1 paper

NM_014619.5

p.S104insFs

c.310dupA

1 paper

NM_014619.5

p.S103A

c.307T>G

1 paper

NM_014619.5

p.S98*

c.293C>A

1 paper

NM_014619.5

p.V92V

c.276C>T

1 paper

NM_014619.5

p.G90insFs

c.270dupG

1 paper

NM_014619.5

p.K89insFs

c.265dupA