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

1 paper

NM_138690.3

p.E332K

c.994G>A

Surrounding Variants

1 paper

NM_138690.3

p.P334Fs

c.1000_1001delinsTFs

1 paper

NM_138690.3

p.P334delins

c.1000_1001delinsTT

1 paper

NM_138690.3

p.P334L

c.1001C>T

1 paper

NM_138690.3

p.R340Q

c.1019G>A

1 paper

NM_138690.3

p.L317fs

c.949_950fs

1 paper

NM_138690.3

p.Q311*

c.931C>T

1 paper

NM_138690.3

p.A307E

c.920C>A

1 paper

NM_138690.3

p.S306C

c.916A>T

1 paper

NM_138690.3

p.L304delFs

c.911_912delTG

1 paper

NM_138690.3

p.I296T

c.887T>C

1 paper

NM_138690.3

p.R286delFs

c.857delG

1 paper

NM_138690.3

p.A272V

c.815C>T