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.K514M

c.1541A>T

Surrounding Variants

1 paper

NM_001083619.3

p.P515A

c.1543C>G

1 paper

NM_001083619.3

p.S513L

c.1538C>T

2 papers

NM_001083619.3

p.G520R

c.1558G>A

2 papers

NM_001083619.3

p.G520R

c.1558G>C

6 papers

NM_001083619.3

p.E508*

c.1522G>T

1 paper

NM_001083619.3

p.E507A

c.1520A>C

1 paper

NM_001083619.3

p.I525V

c.1573A>G

2 papers

NM_001083619.3

p.P528_K530del3

c.1582_1589del9

5 papers

NM_001083619.3

p.P528T

c.1582C>A

1 paper

NM_001083619.3

p.K530_D540insFs

c.1589_1619dup31

1 paper

NM_001083619.3

p.P499Q

c.1496C>A

2 papers

NM_001083619.3

p.K530M

c.1589A>T