Varaico: Literature-Extracted Genetic Variants

GRIN3B

158 papers

RefSeq Summary

The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create ...

Pfam Domains

Lig_chan-Glu_bdaa 459–561UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 574–842UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 3B

HGNC Alias Symbol

GluN3B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_138690.3

p.D173E

c.519C>A

Surrounding Variants

2 papers

NM_138690.3

p.D173E

c.519C>G

1 paper

NM_138690.3

p.G175S

c.523G>A

1 paper

NM_138690.3

p.R180C

c.538C>T

2 papers

NM_138690.3

p.G185S

c.553G>A

4 papers

NM_138690.3

p.T157M

c.470C>T

1 paper

NM_138690.3

p.E156K

c.466G>A

1 paper

NM_138690.3

p.E156*

c.466G>T

1 paper

NM_138690.3

p.P154S

c.460C>T

2 papers

NM_138690.3

p.R194W

c.580C>T

1 paper

NM_138690.3

p.R197Q

c.590G>A

1 paper

NM_138690.3

p.L205Q

c.614T>A

1 paper

NM_138690.3

p.R216G

c.646C>G