Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.D611A

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
ANF_receptoraa 46–381UCSCReceptor family ligand binding region
Lig_chan-Glu_bdaa 414–529UCSCLigated ion channel L-glutamate- and glycine-binding site
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.D611A
c.1832A>C
Surrounding Variants
8 papers
NM_001083619.3
p.D611N
c.1831G>A
1 paper
NM_001083619.3
p.C610S
c.1829G>C
1 paper
NM_001083619.3
p.C610S
c.1828T>A
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.Q608R
c.1823A>G
13 papers
NM_001083619.3
p.Q607R
c.1820A>G
1 paper
NM_001083619.3
p.Q607L
c.1820A>T
7 papers
NM_001083619.3
p.Q607E
c.1819C>G
1 paper
NM_001083619.3
p.Q607*
c.1819C>T
2 papers
NM_001083619.3
p.R615Splc
c.1844+1G>A
1 paper
NM_001083619.3
p.R615Splc
c.1844+7T>C
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