Varaico: Literature-Extracted Genetic Variants

Gene:GRID1
Variant:p.K199R

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.K199R
c.596A>G
Surrounding Variants
1 paper
NM_017551.3
p.M212L
c.634A>C
1 paper
NM_017551.3
p.L217P
c.650T>C
1 paper
NM_017551.3
p.Y220F
c.659A>T
1 paper
NM_017551.3
p.R221W
c.661C>T
1 paper
NM_017551.3
p.R221Q
c.662G>A
1 paper
NM_017551.3
p.G177R
c.529G>A
1 paper
NM_017551.3
p.D222E
c.666C>A
1 paper
NM_017551.3
p.R225C
c.673C>T
2 papers
NM_017551.3
p.A236S
c.706G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."