Varaico: Literature-Extracted Genetic Variants

GRIN2C

148 papers

RefSeq Summary

This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to c...

Pfam Domains

ANF_receptoraa 99–290UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 435–539UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 552–826UCSCLigand-gated ion channel

NMDAR2_Caa 837–922UCSCN-methyl D-aspartate receptor 2B3 C-terminus

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2C

HGNC Previous Symbol

NMDAR2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000835.6

p.R516C

c.1546C>T

Surrounding Variants

1 paper

NM_000835.6

p.R516H

c.1547G>A

1 paper

NM_000835.6

p.E514K

c.1540G>A

1 paper

NM_000835.6

p.T529M

c.1586C>T

1 paper

NM_000835.6

p.R502W

c.1504C>T

1 paper

NM_000835.6

p.E528_G530del0

c.1582_1590del9

1 paper

NM_000835.6

p.V490I

c.1468G>A

1 paper

NM_000835.6

p.R488H

c.1463G>A

2 papers

NM_000835.6

p.R488C

c.1462C>T

1 paper

NM_000835.6

p.R486Q

c.1457G>A

1 paper

NM_000835.6

p.V469G

c.1406T>G

1 paper

NM_000835.6

p.K451N

c.1353G>T

1 paper

NM_000835.6

p.K451N

c.1353G>C