Varaico: Literature-Extracted Genetic Variants

Gene:GRID1
Variant:p.T794I

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.T794I
c.2381C>T
Surrounding Variants
1 paper
NM_017551.3
p.K803N
c.2409G>T
1 paper
NM_017551.3
p.K803N
c.2409G>C
1 paper
NM_017551.3
p.D812D
c.2436C>T
1 paper
NM_017551.3
p.L813_T814insFs
c.2439_2440insG
1 paper
NM_017551.3
p.S815R
c.2443A>C
1 paper
NM_017551.3
p.S815R
c.2445C>G
1 paper
NM_017551.3
p.S815R
c.2445C>A
1 paper
NM_017551.3
p.A817T
c.2449G>A
1 paper
NM_017551.3
p.Q820E
c.2458C>G
2 papers
NM_017551.3
p.G823S
c.2467G>A
1 paper
NM_017551.3
p.H829Y
c.2485C>T
1 paper
NM_017551.3
p.S830T
c.2489G>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."