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

1 paper

NM_021956.5

p.L182fs

c.544_545fs

Surrounding Variants

1 paper

NM_021956.5

p.L182delFs

c.545delT

1 paper

NM_021956.5

p.L185M

c.553T>A

1 paper

NM_021956.5

p.L197F

c.589C>T

7 papers

NM_021956.5

p.R198*

c.592C>T

1 paper

NM_021956.5

p.R198Q

c.593G>A

2 papers

NM_021956.5

p.R202C

c.604C>T

1 paper

NM_021956.5

p.R202H

c.605G>A

1 paper

NM_021956.5

p.P205S

c.613C>T

1 paper

NM_021956.5

p.K216I

c.647A>T

2 papers

NM_021956.5

p.K219N

c.657A>C

5 papers

NM_021956.5

p.K219N

c.657A>T

1 paper

NM_021956.5

p.H225Q

c.675T>A