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.L565P

c.1694T>C

Surrounding Variants

1 paper

NM_007327.4

p.V566_G567del1

c.1697_1699delTGG

1 paper

NM_007327.4

p.V566A

c.1697T>C

1 paper

NM_007327.4

p.G567A

c.1700G>C

2 papers

NM_007327.4

p.W563L

c.1688G>T

3 papers

NM_007327.4

p.L568P

c.1703T>C

3 papers

NM_007327.4

p.S569A

c.1705T>G

1 paper

NM_007327.4

p.T561A

c.1681A>G

1 paper

NM_007327.4

p.T561insFs

c.1681dupA

3 papers

NM_007327.4

p.V570A

c.1709T>C

1 paper

NM_007327.4

p.S560_T561insFs

c.1679_1682dup4

5 papers

NM_007327.4

p.S560_T561ins0

c.1679_1681dupGCA

4 papers

NM_007327.4

p.Q559R

c.1676A>G