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.Q556H

c.1668G>C

Surrounding Variants

1 paper

NM_007327.4

p.Q556H

c.1668G>T

2 papers

NM_007327.4

p.Q556R

c.1667A>G

1 paper

NM_007327.4

p.P557A

c.1669C>G

2 papers

NM_007327.4

p.Q556K

c.1666C>A

12 papers

NM_007327.4

p.P557R

c.1670C>G

8 papers

NM_007327.4

p.Q556*

c.1666C>T

2 papers

NM_007327.4

p.P557L

c.1670C>T

4 papers

NM_007327.4

p.M555I

c.1665G>A

4 papers

NM_007327.4

p.M555I

c.1665G>C

4 papers

NM_007327.4

p.M555I

c.1665G>T

4 papers

NM_007327.4

p.Q559R

c.1676A>G

5 papers

NM_007327.4

p.S560_T561ins0

c.1679_1681dupGCA