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.R286delFs

c.857delC

Surrounding Variants

1 paper

NM_000835.6

p.R286C

c.856C>T

1 paper

NM_000835.6

p.L285L

c.855G>C

1 paper

NM_000835.6

p.G292S

c.874G>A

1 paper

NM_000835.6

p.P265delFs

c.793delG

1 paper

NM_000835.6

p.C317S

c.949T>A

1 paper

NM_000835.6

p.C317S

c.950G>C

1 paper

NM_000835.6

p.H320P

c.959A>C

1 paper

NM_000835.6

p.P323S

c.967C>T

1 paper

NM_000835.6

p.A243V

c.728C>T

1 paper

NM_000835.6

p.R230P

c.689G>C

2 papers

NM_000835.6

p.F224Y

c.671T>A

1 paper

NM_000835.6

p.V223V

c.669G>A