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

6 papers

NM_007327.4

p.Y647C

c.1940A>G

Surrounding Variants

21 papers

NM_007327.4

p.Y647S

c.1940A>C

1 paper

NM_007327.4

p.Y647H

c.1939T>C

4 papers

NM_007327.4

p.T648A

c.1942A>G

1 paper

NM_007327.4

p.S646Y

c.1937C>A

1 paper

NM_007327.4

p.S646C

c.1937C>G

4 papers

NM_007327.4

p.S646A

c.1936T>G

1 paper

NM_007327.4

p.A649T

c.1945G>A

1 paper

NM_007327.4

p.A649S

c.1945G>T

10 papers

NM_007327.4

p.A645S

c.1933G>T

1 paper

NM_007327.4

p.N650T

c.1949A>C

1 paper

NM_007327.4

p.N650S

c.1949A>G

3 papers

NM_007327.4

p.N650I

c.1949A>T