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.L1049ins3

c.3146_3147ins9

Surrounding Variants

1 paper

NM_000835.6

p.L1049ins3

c.3145_3146ins9

1 paper

NM_000835.6

p.P1041S

c.3121C>T

1 paper

NM_000835.6

p.A1072V

c.3215C>T

1 paper

NM_000835.6

p.S995L

c.2984C>T

1 paper

NM_000835.6

p.S992F

c.2975C>T

1 paper

NM_000835.6

p.S1112*

c.3335C>A

1 paper

NM_000835.6

p.L1117V

c.3349T>G

1 paper

NM_000835.6

p.A968T

c.2902G>A

1 paper

NM_000835.6

p.G1135delFs

c.3405delG

1 paper

NM_000835.6

p.E1136fs

c.3406_3407fs

1 paper

NM_000835.6

p.C1150F

c.3449G>T

1 paper

NM_000835.6

p.A1153T

c.3457G>A