Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2D
Variant:p.V647L

GRIN2D

179 papers

RefSeq Summary

N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficie...

Pfam Domains

ANF_receptoraa 80–317UCSCReceptor family ligand binding region
Lig_chan-Glu_bdaa 474–569UCSCLigated ion channel L-glutamate- and glycine-binding site
Lig_chanaa 582–856UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2D

HGNC Previous Symbol

NMDAR2D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000836.4
p.V647L
c.1939G>C
Surrounding Variants
1 paper
NM_000836.4
p.V647L
c.1939G>T
1 paper
NM_000836.4
p.P646H
c.1937C>A
1 paper
NM_000836.4
p.P646S
c.1936C>T
1 paper
NM_000836.4
p.G652R
c.1954G>A
1 paper
NM_000836.4
p.I633V
c.1897A>G
1 paper
NM_000836.4
p.A666V
c.1997C>T
19 papers
NM_000836.4
p.V667I
c.1999G>A
4 papers
NM_000836.4
p.L670F
c.2008C>T
1 paper
NM_000836.4
p.T674K
c.2021C>A
3 papers
NM_000836.4
p.A675T
c.2023G>A
1 paper
NM_000836.4
p.A675V
c.2024C>T
3 papers
NM_000836.4
p.A678D
c.2033C>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."