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.F595delFs

c.1785delT

Surrounding Variants

2 papers

NM_001083619.3

p.F595fs

c.1783_1784fs

1 paper

NM_001083619.3

p.S601del1

c.1801_1803delTCC

1 paper

NM_001083619.3

p.E582K

c.1744G>A

7 papers

NM_001083619.3

p.Q607E

c.1819C>G

1 paper

NM_001083619.3

p.Q607*

c.1819C>T

13 papers

NM_001083619.3

p.Q607R

c.1820A>G

1 paper

NM_001083619.3

p.Q607L

c.1820A>T

1 paper

NM_001083619.3

p.Q608R

c.1823A>G

5 papers

NM_001083619.3

p.G609R

c.1825G>A

5 papers

NM_001083619.3

p.G609R

c.1825G>C

1 paper

NM_001083619.3

p.D579Y

c.1735G>T

1 paper

NM_001083619.3

p.C610S

c.1828T>A