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

2 papers

NM_001134407.3

p.I605M

c.1815A>G

Surrounding Variants

6 papers

NM_001134407.3

p.W606*

c.1817G>A

5 papers

NM_001134407.3

p.W606*

c.1818G>A

1 paper

NM_001134407.3

p.A604V

c.1811C>T

1 paper

NM_001134407.3

p.L607V

c.1819C>G

1 paper

NM_001134407.3

p.L608I

c.1822C>A

1 paper

NM_001134407.3

p.W609*

c.1826G>A

1 paper

NM_001134407.3

p.W609*

c.1827G>A

1 paper

NM_001134407.3

p.I601S

c.1802T>G

1 paper

NM_001134407.3

p.I601V

c.1801A>G

1 paper

NM_001134407.3

p.L611M

c.1831C>A

12 papers

NM_001134407.3

p.L611Q

c.1832T>A

2 papers

NM_001134407.3

p.V612M

c.1834G>A