Varaico: Literature-Extracted Genetic Variants

Gene:GRIN3A
Variant:p.P647H

GRIN3A

196 papers

RefSeq Summary

This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes ...

Pfam Domains

ANF_receptoraa 124–471UCSCReceptor family ligand binding region
Lig_chan-Glu_bdaa 559–661UCSCLigated ion channel L-glutamate- and glycine-binding site
Lig_chanaa 674–942UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 3A

HGNC Alias Symbol

GluN3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133445.3
p.P647H
c.1940C>A
Surrounding Variants
1 paper
NM_133445.3
p.F644L
c.1932C>G
1 paper
NM_133445.3
p.F644L
c.1932C>A
1 paper
NM_133445.3
p.F644L
c.1930T>C
1 paper
NM_133445.3
p.V641V
c.1923G>A
1 paper
NM_133445.3
p.L653L
c.1959G>A
1 paper
NM_133445.3
p.R638W
c.1912C>T
1 paper
NM_133445.3
p.N635S
c.1904A>G
1 paper
NM_133445.3
p.S633G
c.1897A>G
1 paper
NM_133445.3
p.G618D
c.1853G>A
1 paper
NM_133445.3
p.G611R
c.1831G>A
1 paper
NM_133445.3
p.L685P
c.2054T>C
1 paper
NM_133445.3
p.K609R
c.1826A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."