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

3 papers

NM_133445.3

p.V132L

c.394G>C

Surrounding Variants

3 papers

NM_133445.3

p.V132L

c.394G>T

1 paper

NM_133445.3

p.D133N

c.397G>A

1 paper

NM_133445.3

p.R137C

c.409C>T

1 paper

NM_133445.3

p.V138M

c.412G>A

1 paper

NM_133445.3

p.E139Q

c.415G>C

1 paper

NM_133445.3

p.W123C

c.369G>T

1 paper

NM_133445.3

p.W123*

c.369G>A

2 papers

NM_133445.3

p.L141M

c.421C>A

1 paper

NM_133445.3

p.L122L

c.366G>A

1 paper

NM_133445.3

p.L122M

c.364C>A

1 paper

NM_133445.3

p.A121T

c.361G>A

1 paper

NM_133445.3

p.E120A

c.359A>C