Varaico: Literature-Extracted Genetic Variants

GRIN1

548 papers

RefSeq Summary

The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple su...

Pfam Domains

ANF_receptoraa 38–359UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 444–546UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 559–824UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 1

HGNC Previous Symbol

NMDAR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007327.4

p.V825A

c.2474T>C

Surrounding Variants

16 papers

NM_007327.4

p.G827R

c.2479G>A

16 papers

NM_007327.4

p.G827R

c.2479G>C

2 papers

NM_007327.4

p.G827W

c.2479G>T

2 papers

NM_007327.4

p.G827A

c.2480G>C

1 paper

NM_007327.4

p.G823A

c.2468G>C

1 paper

NM_007327.4

p.I828V

c.2482A>G

3 papers

NM_007327.4

p.G822A

c.2465G>C

2 papers

NM_007327.4

p.G822W

c.2464G>T

2 papers

NM_007327.4

p.V820A

c.2459T>C

5 papers

NM_007327.4

p.M818T

c.2453T>C

1 paper

NM_007327.4

p.M818R

c.2453T>G

2 papers

NM_007327.4

p.M818L

c.2452A>C