Varaico: Literature-Extracted Genetic Variants

Gene:GRID1
Variant:p.D742E

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
1 paper
NM_017551.3
p.D742E
c.2226T>A
Surrounding Variants
1 paper
NM_017551.3
p.D742E
c.2226T>G
1 paper
NM_017551.3
p.D742V
c.2225A>T
1 paper
NM_017551.3
p.D742A
c.2225A>C
4 papers
NM_017551.3
p.T752M
c.2255C>T
1 paper
NM_017551.3
p.K731_A732Splc
c.2194-13T>G
1 paper
NM_017551.3
p.N763T
c.2288A>C
1 paper
NM_017551.3
p.Y770F
c.2309A>T
1 paper
NM_017551.3
p.H776Y
c.2326C>T
1 paper
NM_017551.3
p.H776Q
c.2328T>G
1 paper
NM_017551.3
p.H776Q
c.2328T>A
1 paper
NM_017551.3
p.P779L
c.2336C>T
1 paper
NM_017551.3
p.T794I
c.2381C>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."