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.T51P

c.151A>C

Surrounding Variants

1 paper

NM_000835.6

p.R49H

c.146G>A

1 paper

NM_000835.6

p.Q53fs

c.157_158fs

2 papers

NM_000835.6

p.R47H

c.140G>A

1 paper

NM_000835.6

p.R47C

c.139C>T

1 paper

NM_000835.6

p.Q45P

c.134A>C

3 papers

NM_000835.6

p.L65F

c.193C>T

1 paper

NM_000835.6

p.E61_P64del0

c.183_191del9

1 paper

NM_000835.6

p.V67G

c.200T>G

1 paper

NM_000835.6

p.V34M

c.100G>A

2 papers

NM_000835.6

p.T31M

c.92C>T

1 paper

NM_000835.6

p.T71N

c.212C>A

1 paper

NM_000835.6

p.G26G

c.78C>A