Varaico: Literature-Extracted Genetic Variants

GRIA2

347 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 a...

Pfam Domains

ANF_receptoraa 46–381UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 414–529UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 543–824UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor AMPA type subunit 2

HGNC Previous Symbol

GLUR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001083619.3

p.E576A

c.1727A>C

Surrounding Variants

1 paper

NM_001083619.3

p.E576E

c.1728G>A

1 paper

NM_001083619.3

p.E575K

c.1723G>A

1 paper

NM_001083619.3

p.E575Q

c.1723G>C

1 paper

NM_001083619.3

p.D579Y

c.1735G>T

1 paper

NM_001083619.3

p.E571D

c.1713G>C

1 paper

NM_001083619.3

p.E571D

c.1713G>T

1 paper

NM_001083619.3

p.E582K

c.1744G>A

1 paper

NM_001083619.3

p.S565N

c.1694G>A

1 paper

NM_001083619.3

p.V564A

c.1691T>C

1 paper

NM_001083619.3

p.V560A

c.1679T>C

1 paper

NM_001083619.3

p.F595delFs

c.1785delT

2 papers

NM_001083619.3

p.F595fs

c.1783_1784fs