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.Q781K

c.2341C>A

Surrounding Variants

3 papers

NM_001134407.3

p.Q781fs

c.2341_2342fs

1 paper

NM_001134407.3

p.L780P

c.2339T>C

8 papers

NM_001134407.3

p.A778_L780delFs

c.2334_2338del5

4 papers

NM_001134407.3

p.Q781Fs

c.2341_2343delinsATFs

1 paper

NM_001134407.3

p.F782I

c.2344T>A

1 paper

NM_001134407.3

p.L780I

c.2338C>A

1 paper

NM_001134407.3

p.L779fs

c.2335_2336fs

2 papers

NM_001134407.3

p.V783L

c.2347G>T

2 papers

NM_001134407.3

p.V783L

c.2347G>C

6 papers

NM_001134407.3

p.L779fs

c.2335_2336fs

2 papers

NM_001134407.3

p.V783A

c.2348T>C

1 paper

NM_001134407.3

p.A778D

c.2333C>A