Varaico: Literature-Extracted Genetic Variants

Gene:GRID1
Variant:p.P286L

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
3 papers
NM_017551.3
p.P286L
c.857C>T
Surrounding Variants
1 paper
NM_017551.3
p.R282Q
c.845G>A
1 paper
NM_017551.3
p.R282W
c.844C>T
1 paper
NM_017551.3
p.Q292H
c.876G>T
1 paper
NM_017551.3
p.Q292H
c.876G>C
1 paper
NM_017551.3
p.T279I
c.836C>T
2 papers
NM_017551.3
p.T295M
c.884C>T
1 paper
NM_017551.3
p.A274V
c.821C>T
1 paper
NM_017551.3
p.S273C
c.817A>T
2 papers
NM_017551.3
p.R300L
c.899G>T
1 paper
NM_017551.3
p.R300H
c.899G>A
1 paper
NM_017551.3
p.D269V
c.806A>T
1 paper
NM_017551.3
p.L304P
c.911T>C
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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."