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.H439Y

c.1315C>T

Surrounding Variants

1 paper

NM_000835.6

p.H439L

c.1316A>T

1 paper

NM_000835.6

p.T430_R435del6

c.1288_1304del18

1 paper

NM_000835.6

p.P428L

c.1283C>T

1 paper

NM_000835.6

p.T407M

c.1220C>T

1 paper

NM_000835.6

p.R389C

c.1165C>T

1 paper

NM_000835.6

p.V386M

c.1156G>A

1 paper

NM_000835.6

p.V379I

c.1135G>A

1 paper

NM_000835.6

p.R374H

c.1121G>A

1 paper

NM_000835.6

p.K451N

c.1353G>T

1 paper

NM_000835.6

p.K451N

c.1353G>C

1 paper

NM_000835.6

p.V469G

c.1406T>G

1 paper

NM_000835.6

p.R486Q

c.1457G>A