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.A338S

c.1012G>T

Surrounding Variants

1 paper

NM_014619.5

p.A338G

c.1013C>G

1 paper

NM_014619.5

p.Q342*

c.1024C>T

2 papers

NM_014619.5

p.V330M

c.988G>A

1 paper

NM_014619.5

p.M348I

c.1044G>A

1 paper

NM_014619.5

p.M348I

c.1044G>C

1 paper

NM_014619.5

p.M348I

c.1044G>T

1 paper

NM_014619.5

p.A302_L303Splc

c.907-23G>T

1 paper

NM_014619.5

p.H362Y

c.1084C>T

1 paper

NM_014619.5

p.N366T

c.1097A>C

1 paper

NM_014619.5

p.N384insFs

c.1151dupA

1 paper

NM_014619.5

p.A302_L303Splc

c.907-4110G>A

1 paper

NM_014619.5

p.Q388_I389Splc

c.1164+3524G>A