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

2 papers

NM_000835.6

p.I863T

c.2588T>C

Surrounding Variants

1 paper

NM_000835.6

p.Q871R

c.2612A>G

1 paper

NM_000835.6

p.Q898R

c.2693A>G

1 paper

NM_000835.6

p.T906M

c.2717C>T

1 paper

NM_000835.6

p.S912F

c.2735C>T

1 paper

NM_000835.6

p.R915H

c.2744G>A

1 paper

NM_000835.6

p.A916T

c.2746G>A

1 paper

NM_000835.6

p.S933P

c.2797T>C

1 paper

NM_000835.6

p.A968T

c.2902G>A

1 paper

NM_000835.6

p.S992F

c.2975C>T

1 paper

NM_000835.6

p.S995L

c.2984C>T

1 paper

NM_000835.6

p.P1041S

c.3121C>T

1 paper

NM_000835.6

p.L1049ins3

c.3146_3147ins9