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

Selected Variant

1 paper

NM_133445.3

p.L315H

c.944T>A

Surrounding Variants

1 paper

NM_133445.3

p.L315P

c.944T>C

1 paper

NM_133445.3

p.I318N

c.953T>A

1 paper

NM_133445.3

p.P323S

c.967C>T

1 paper

NM_133445.3

p.D306D

c.918C>T

1 paper

NM_133445.3

p.N296N

c.888C>T

1 paper

NM_133445.3

p.R336Q

c.1007G>A

1 paper

NM_133445.3

p.R337Q

c.1010G>A

3 papers

NM_133445.3

p.E340K

c.1018G>A

1 paper

NM_133445.3

p.N286delFs

c.857delT

1 paper

NM_133445.3

p.G346R

c.1036G>C

1 paper

NM_133445.3

p.G346R

c.1036G>A

1 paper

NM_133445.3

p.T283_Q284delFs

c.849_850delGG