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.N619K

c.1857C>G

Surrounding Variants

1 paper

NM_000835.6

p.N619K

c.1857C>A

1 paper

NM_000835.6

p.E618Q

c.1852G>C

1 paper

NM_000835.6

p.A636S

c.1906G>T

1 paper

NM_000835.6

p.A636delins

c.1906_1907delinsAG

2 papers

NM_000835.6

p.A641T

c.1921G>A

1 paper

NM_000835.6

p.A596S

c.1786G>T

1 paper

NM_000835.6

p.P595delFs

c.1785delT

1 paper

NM_000835.6

p.G594fs

c.1780_1781fs

1 paper

NM_000835.6

p.G594delFs

c.1781delC

1 paper

NM_000835.6

p.A645S

c.1933G>T

1 paper

NM_000835.6

p.A649T

c.1945G>A

1 paper

NM_000835.6

p.S661*

c.1982C>A