Varaico: Literature-Extracted Genetic Variants

GRIN2A

1,076 papers

RefSeq Summary

This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-d...

Pfam Domains

ANF_receptoraa 66–330UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 404–541UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 554–828UCSCLigand-gated ion channel

NMDAR2_Caa 839–1464UCSCN-methyl D-aspartate receptor 2B3 C-terminus

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2A

HGNC Previous Symbol

NMDAR2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001134407.3

p.V537F

c.1609G>T

Surrounding Variants

5 papers

NM_001134407.3

p.S538*

c.1613C>G

5 papers

NM_001134407.3

p.S538*

c.1613C>A

1 paper

NM_001134407.3

p.V535D

c.1604T>A

1 paper

NM_001134407.3

p.S534I

c.1601G>T

1 paper

NM_001134407.3

p.S534N

c.1601G>A

1 paper

NM_001134407.3

p.S534C

c.1600A>T

1 paper

NM_001134407.3

p.S540R

c.1618A>C

1 paper

NM_001134407.3

p.S534R

c.1600A>C

3 papers

NM_001134407.3

p.S540N

c.1619G>A

1 paper

NM_001134407.3

p.S540R

c.1620T>G

1 paper

NM_001134407.3

p.S540R

c.1620T>A

1 paper

NM_001134407.3

p.N541D

c.1621A>G