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.M547del1

c.1639_1641delCAT

Surrounding Variants

4 papers

NM_133445.3

p.N549S

c.1646A>G

1 paper

NM_133445.3

p.S552C

c.1655C>G

2 papers

NM_133445.3

p.L554L

c.1660T>C

1 paper

NM_133445.3

p.C537S

c.1610G>C

1 paper

NM_133445.3

p.C537S

c.1609T>A

1 paper

NM_133445.3

p.N565S

c.1694A>G

1 paper

NM_133445.3

p.T528_E530del0

c.1582_1590del9

1 paper

NM_133445.3

p.T567A

c.1699A>G

1 paper

NM_133445.3

p.P524A

c.1570C>G

1 paper

NM_133445.3

p.K573E

c.1717A>G

1 paper

NM_133445.3

p.E585delFs

c.1753delC

1 paper

NM_133445.3

p.E585fs

c.1753_1754fs