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

1–12 of 132 variants

5 papers

NM_014619.5

p.A28Splc

c.83-10039T>C

2 papers

NM_014619.5

p.L137Q

c.410T>A

2 papers

NM_014619.5

p.A167G

c.500C>G

2 papers

NM_014619.5

p.R180W

c.538C>T

2 papers

NM_014619.5

p.V330M

c.988G>A

2 papers

NM_014619.5

p.P923T

c.2767C>A

1 paper

NM_014619.5

p.P2delFs

c.4delC

1 paper

NM_014619.5

p.P2fs

c.4_5fs

1 paper

NM_014619.5

p.V4D

c.11T>A

1 paper

NM_014619.5

p.S5S

c.15G>T

1 paper

NM_014619.5

p.P12T

c.34C>A

1 paper

NM_014619.5

p.V16M

c.46G>A