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.T404T

c.1212C>T

Surrounding Variants

1 paper

NM_133445.3

p.M405I

c.1215G>T

1 paper

NM_133445.3

p.M405I

c.1215G>C

1 paper

NM_133445.3

p.M405I

c.1215G>A

1 paper

NM_133445.3

p.E394G

c.1181A>G

3 papers

NM_133445.3

p.V389L

c.1165G>T

3 papers

NM_133445.3

p.V389L

c.1165G>C

1 paper

NM_133445.3

p.V389I

c.1165G>A

1 paper

NM_133445.3

p.G430E

c.1289G>A

1 paper

NM_133445.3

p.H377Q

c.1131T>G

1 paper

NM_133445.3

p.H377Q

c.1131T>A

1 paper

NM_133445.3

p.I375T

c.1124T>C

1 paper

NM_133445.3

p.I375V

c.1123A>G