Varaico: Literature-Extracted Genetic Variants

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

1–12 of 231 variants

9 papers

NM_133445.3

p.R480G

c.1438C>G

9 papers

NM_133445.3

p.G487R

c.1459G>C

9 papers

NM_133445.3

p.G487R

c.1459G>A

7 papers

NM_133445.3

p.V362M

c.1084G>A

6 papers

NM_133445.3

p.D835N

c.2503G>A

5 papers

NM_133445.3

p.R480H

c.1439G>A

4 papers

NM_133445.3

p.N549S

c.1646A>G

4 papers

NM_133445.3

p.R1041Q

c.3122G>A

3 papers

NM_133445.3

p.V132L

c.394G>T

3 papers

NM_133445.3

p.V132L

c.394G>C

3 papers

NM_133445.3

p.E227*

c.679G>T

3 papers

NM_133445.3

p.E340K

c.1018G>A