Varaico: Literature-Extracted Genetic Variants

Gene:GRID1
Variant:p.Q117E

GRID1

143 papers

RefSeq Summary

This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasti...

Pfam Domains

ANF_receptoraa 36–402UCSCReceptor family ligand binding region
Lig_chan-Glu_bdaa 437–549UCSCLigated ion channel L-glutamate- and glycine-binding site
Lig_chanaa 562–842UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor delta type subunit 1

HGNC Alias Symbol

KIAA1220

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017551.3
p.Q117E
c.349C>G
Surrounding Variants
1 paper
NM_017551.3
p.R118H
c.353G>A
1 paper
NM_017551.3
p.N119D
c.355A>G
1 paper
NM_017551.3
p.P120S
c.358C>T
1 paper
NM_017551.3
p.P120L
c.359C>T
2 papers
NM_017551.3
p.P120Q
c.359C>A
1 paper
NM_017551.3
p.G121V
c.362G>T
1 paper
NM_017551.3
p.A127T
c.379G>A
1 paper
NM_017551.3
p.T106T
c.318G>A
1 paper
NM_017551.3
p.T106A
c.316A>G
1 paper
NM_017551.3
p.G136S
c.406G>A
1 paper
NM_017551.3
p.G136D
c.407G>A
1 paper
NM_017551.3
p.C96S
c.287G>C
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