Varaico: Literature-Extracted Genetic Variants

GRIK2

299 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 52–397UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 431–546UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 560–831UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 2

HGNC Previous Symbol

GLUR6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021956.5

p.Y521C

c.1562A>G

Surrounding Variants

1 paper

NM_021956.5

p.Y521H

c.1561T>C

2 papers

NM_021956.5

p.R523G

c.1567C>G

1 paper

NM_021956.5

p.E524K

c.1570G>A

2 papers

NM_021956.5

p.E524G

c.1571A>G

1 paper

NM_021956.5

p.A518G

c.1553C>G

1 paper

NM_021956.5

p.A518V

c.1553C>T

1 paper

NM_021956.5

p.A518T

c.1552G>A

5 papers

NM_021956.5

p.K525E

c.1573A>G

1 paper

NM_021956.5

p.D528A

c.1583A>C

1 paper

NM_021956.5

p.V514D

c.1541T>A

1 paper

NM_021956.5

p.V514A

c.1541T>C

1 paper

NM_021956.5

p.V514G

c.1541T>G