Varaico: Literature-Extracted Genetic Variants

Gene:GRID1
Variant:p.F558L

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.F558L
c.1674T>G
Surrounding Variants
1 paper
NM_017551.3
p.F558L
c.1674T>A
1 paper
NM_017551.3
p.F558L
c.1672T>C
1 paper
NM_017551.3
p.F563F
c.1689C>T
1 paper
NM_017551.3
p.E549Q
c.1645G>C
1 paper
NM_017551.3
p.P548S
c.1642C>T
1 paper
NM_017551.3
p.K547E
c.1639A>G
1 paper
NM_017551.3
p.G542A
c.1625G>C
1 paper
NM_017551.3
p.M537R
c.1610T>G
1 paper
NM_017551.3
p.M537V
c.1609A>G
1 paper
NM_017551.3
p.R535W
c.1603C>T
5 papers
NM_017551.3
p.V529I
c.1585G>A
2 papers
NM_017551.3
p.R526K
c.1577G>A
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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."