Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.K751E

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.K751E
c.2251A>G
Surrounding Variants
2 papers
NM_001083619.3
p.G745D
c.2234G>A
1 paper
NM_001083619.3
p.K743E
c.2227A>G
1 paper
NM_001083619.3
p.C739C
c.2217C>T
6 papers
NM_001083619.3
p.R764G
c.2290A>G
1 paper
NM_001083619.3
p.E731*
c.2191G>T
1 paper
NM_001083619.3
p.N730Y
c.2188A>T
1 paper
NM_001083619.3
p.A722V
c.2165C>T
1 paper
NM_001083619.3
p.A722T
c.2164G>A
1 paper
NM_001083619.3
p.G719W
c.2155G>T
1 paper
NM_001083619.3
p.S717F
c.2150C>T
1 paper
NM_001083619.3
p.R715Q
c.2144G>A
1 paper
NM_001083619.3
p.A708S
c.2122G>T
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