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.V864M

c.2590G>A

Surrounding Variants

1 paper

NM_133445.3

p.L849_D850del2

c.2545_2549del6

2 papers

NM_133445.3

p.D845A

c.2534A>C

2 papers

NM_133445.3

p.D845N

c.2533G>A

6 papers

NM_133445.3

p.D835N

c.2503G>A

1 paper

NM_133445.3

p.N834_D835delins

c.2502_2503delinsCA

1 paper

NM_133445.3

p.N834N

c.2502T>C

1 paper

NM_133445.3

p.N834delins

c.2501_2502delinsCA

1 paper

NM_133445.3

p.T825A

c.2473A>G

3 papers

NM_133445.3

p.M817V

c.2449A>G

1 paper

NM_133445.3

p.E815K

c.2443G>A

1 paper

NM_133445.3

p.F810C

c.2429T>G

1 paper

NM_133445.3

p.S809R

c.2427T>G