Varaico: Literature-Extracted Genetic Variants

Gene:GRIK2
Variant:p.V685L

GRIK2

299 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 t...

Pfam Domains

ANF_receptoraa 52–397UCSCReceptor family ligand binding region
Lig_chan-Glu_bdaa 431–546UCSCLigated ion channel L-glutamate- and glycine-binding site
Lig_chanaa 560–831UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 2

HGNC Previous Symbol

GLUR6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021956.5
p.V685L
c.2053G>T
Surrounding Variants
1 paper
NM_021956.5
p.V685I
c.2053G>A
2 papers
NM_021956.5
p.V685L
c.2053G>C
1 paper
NM_021956.5
p.V685E
c.2054T>A
1 paper
NM_021956.5
p.D687A
c.2060A>C
1 paper
NM_021956.5
p.D687G
c.2060A>G
1 paper
NM_021956.5
p.A689T
c.2065G>A
1 paper
NM_021956.5
p.A689S
c.2065G>T
1 paper
NM_021956.5
p.A689G
c.2066C>G
1 paper
NM_021956.5
p.A689V
c.2066C>T
1 paper
NM_021956.5
p.T690A
c.2068A>G
1 paper
NM_021956.5
p.M691K
c.2072T>A
1 paper
NM_021956.5
p.M691I
c.2073G>A
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