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.T200S

c.598A>T

Surrounding Variants

1 paper

NM_000835.6

p.T200R

c.599C>G

1 paper

NM_000835.6

p.E202D

c.606G>T

1 paper

NM_000835.6

p.E202D

c.606G>C

1 paper

NM_000835.6

p.P205insFs

c.614dupC

1 paper

NM_000835.6

p.P205fs

c.613_614fs

1 paper

NM_000835.6

p.R183_V191del0

c.547_573del27

1 paper

NM_000835.6

p.V191A

c.572T>C

1 paper

NM_000835.6

p.R183H

c.548G>A

1 paper

NM_000835.6

p.R217H

c.650G>A

1 paper

NM_000835.6

p.L219L

c.657C>A

1 paper

NM_000835.6

p.V223V

c.669G>A

2 papers

NM_000835.6

p.F224Y

c.671T>A