Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.F644L

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
6 papers
NM_001083619.3
p.F644L
c.1930T>C
Surrounding Variants
6 papers
NM_001083619.3
p.F644L
c.1932C>A
6 papers
NM_001083619.3
p.F644L
c.1932C>G
4 papers
NM_001083619.3
p.A643G
c.1928C>G
2 papers
NM_001083619.3
p.A643V
c.1928C>T
1 paper
NM_001083619.3
p.A643T
c.1927G>A
3 papers
NM_001083619.3
p.L645R
c.1934T>G
1 paper
NM_001083619.3
p.A642S
c.1924G>T
5 papers
NM_001083619.3
p.T646N
c.1937C>A
6 papers
NM_001083619.3
p.V647L
c.1939G>C
6 papers
NM_001083619.3
p.V647L
c.1939G>T
1 paper
NM_001083619.3
p.A639T
c.1915G>A
9 papers
NM_001083619.3
p.A639S
c.1915G>T
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