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

9 papers

NM_133445.3

p.R480G

c.1438C>G

Surrounding Variants

5 papers

NM_133445.3

p.R480H

c.1439G>A

1 paper

NM_133445.3

p.L481F

c.1443G>T

1 paper

NM_133445.3

p.L481F

c.1443G>C

1 paper

NM_133445.3

p.Q485R

c.1454A>G

1 paper

NM_133445.3

p.G474V

c.1421G>T

1 paper

NM_133445.3

p.G487insFs

c.1459_1460insA

9 papers

NM_133445.3

p.G487R

c.1459G>C

9 papers

NM_133445.3

p.G487R

c.1459G>A

1 paper

NM_133445.3

p.G487V

c.1460G>T

1 paper

NM_133445.3

p.G487fs

c.1459_1460fs

1 paper

NM_133445.3

p.G487delFs

c.1460delC

1 paper

NM_133445.3

p.K488E

c.1462A>G