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

1–12 of 158 variants

3 papers

NM_000835.6

p.L65F

c.193C>T

3 papers

NM_000835.6

p.A834T

c.2500G>A

2 papers

NM_000835.6

p.W18*

c.53G>A

2 papers

NM_000835.6

p.W18*

c.54G>A

2 papers

NM_000835.6

p.T31M

c.92C>T

2 papers

NM_000835.6

p.R47H

c.140G>A

2 papers

NM_000835.6

p.F224Y

c.671T>A

2 papers

NM_000835.6

p.R488C

c.1462C>T

2 papers

NM_000835.6

p.A641T

c.1921G>A

2 papers

NM_000835.6

p.R693C

c.2077C>T

2 papers

NM_000835.6

p.I863T

c.2588T>C

1 paper

NM_000835.6

p.P23L

c.68C>T