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.E227*

c.679G>T

Surrounding Variants

1 paper

NM_133445.3

p.R230P

c.689G>C

1 paper

NM_133445.3

p.H217Y

c.649C>T

1 paper

NM_133445.3

p.L197P

c.590T>C

1 paper

NM_133445.3

p.A195A

c.585G>T

1 paper

NM_133445.3

p.V184G

c.551T>G

1 paper

NM_133445.3

p.Q182delFs

c.544delG

2 papers

NM_133445.3

p.S179F

c.536C>T

1 paper

NM_133445.3

p.S179C

c.536C>G

1 paper

NM_133445.3

p.S171L

c.512C>T

1 paper

NM_133445.3

p.P165S

c.493C>T

1 paper

NM_133445.3

p.L163R

c.488T>G

1 paper

NM_133445.3

p.E149V

c.446A>T