Varaico: Literature-Extracted Genetic Variants

GRIN2B

834 papers

RefSeq Summary

This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel wh...

Pfam Domains

ANF_receptoraa 67–370UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 404–542UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 555–829UCSCLigand-gated ion channel

NMDAR2_Caa 840–1484UCSCN-methyl D-aspartate receptor 2B3 C-terminus

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2B

HGNC Previous Symbol

NMDAR2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000834.5

p.W844R

c.2530T>C

Surrounding Variants

1 paper

NM_000834.5

p.W844R

c.2530T>A

1 paper

NM_000834.5

p.F846C

c.2537T>G

16 papers

NM_000834.5

p.R847*

c.2539C>T

1 paper

NM_000834.5

p.R847Q

c.2540G>A

1 paper

NM_000834.5

p.C838_E839del2

c.2512_2516del6

1 paper

NM_000834.5

p.H848R

c.2543A>G

2 papers

NM_000834.5

p.E839*

c.2515G>T

3 papers

NM_000834.5

p.E839K

c.2515G>A

1 paper

NM_000834.5

p.C838C

c.2514C>T

1 paper

NM_000834.5

p.T835_I837del0

c.2503_2511del9

1 paper

NM_000834.5

p.F850S

c.2549T>C

1 paper

NM_000834.5

p.I837T

c.2510T>C