Varaico: Literature-Extracted Genetic Variants

GRIN2D

179 papers

RefSeq Summary

N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficie...

Pfam Domains

ANF_receptoraa 80–317UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 474–569UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 582–856UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2D

HGNC Previous Symbol

NMDAR2D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000836.4

p.S471N

c.1412G>A

Surrounding Variants

1 paper

NM_000836.4

p.D458fs

c.1372_1373fs

1 paper

NM_000836.4

p.I451V

c.1351A>G

3 papers

NM_000836.4

p.D449N

c.1345G>A

1 paper

NM_000836.4

p.F442V

c.1324T>G

1 paper

NM_000836.4

p.E439_R440ins7

c.1315_1319ins21

1 paper

NM_000836.4

p.E438_E439ins7

c.1312_1316ins21

1 paper

NM_000836.4

p.L432F

c.1294C>T

1 paper

NM_000836.4

p.D428N

c.1282G>A

1 paper

NM_000836.4

p.G420D

c.1259G>A

1 paper

NM_000836.4

p.R478fs

c.1432_1433fs

1 paper

NM_000836.4

p.C483R

c.1447T>C

1 paper

NM_000836.4

p.C483C

c.1449C>T