Varaico: Literature-Extracted Genetic Variants

GRIK3

180 papers

RefSeq Summary

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to t...

Pfam Domains

ANF_receptoraa 55–400UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 434–548UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 562–832UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 3

HGNC Alias Symbols

GluK3; GLUR7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000831.4

p.L561M

c.1681C>A

Surrounding Variants

1 paper

NM_000831.4

p.S556delFs

c.1666_1667delGA

1 paper

NM_000831.4

p.S556fs

c.1666_1667fs

1 paper

NM_000831.4

p.V554I

c.1660G>A

1 paper

NM_000831.4

p.A572T

c.1714G>A

1 paper

NM_000831.4

p.S577I

c.1730G>T

1 paper

NM_000831.4

p.V582I

c.1744G>A

1 paper

NM_000831.4

p.F535F

c.1605C>T

1 paper

NM_000831.4

p.F531L

c.1593C>G

1 paper

NM_000831.4

p.F531L

c.1593C>A

1 paper

NM_000831.4

p.F531L

c.1591T>C

2 papers

NM_000831.4

p.I529M

c.1587C>G

1 paper

NM_000831.4

p.R525*

c.1573C>T