Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1

GRIN1

548 papers

RefSeq Summary

The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple su...

Pfam Domains

ANF_receptoraa 38–359UCSCReceptor family ligand binding region
Lig_chan-Glu_bdaa 444–546UCSCLigated ion channel L-glutamate- and glycine-binding site
Lig_chanaa 559–824UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 1

HGNC Previous Symbol

NMDAR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 621 variants
27 papers
NM_007327.4
p.G815R
c.2443G>C
25 papers
NM_007327.4
p.G815R
c.2443G>A
22 papers
NM_007327.4
p.M641I
c.1923G>A
22 papers
NM_007327.4
p.M641I
c.1923G>C
22 papers
NM_007327.4
p.M641I
c.1923G>T
21 papers
NM_007327.4
p.Y647S
c.1940A>C
20 papers
NM_007327.4
p.D552E
c.1656C>A
20 papers
NM_007327.4
p.D552E
c.1656C>G
17 papers
NM_007327.4
p.N650K
c.1950C>A
17 papers
NM_007327.4
p.N650K
c.1950C>G
16 papers
NM_007327.4
p.G827R
c.2479G>A
16 papers
NM_007327.4
p.G827R
c.2479G>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."