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.F639Y

c.1916T>A

Surrounding Variants

2 papers

NM_007327.4

p.F639S

c.1916T>C

1 paper

NM_007327.4

p.F639C

c.1916T>G

1 paper

NM_007327.4

p.F639I

c.1915T>A

1 paper

NM_007327.4

p.F639L

c.1917T>A

1 paper

NM_007327.4

p.F639L

c.1915T>C

1 paper

NM_007327.4

p.F639V

c.1915T>G

1 paper

NM_007327.4

p.F639L

c.1917T>G

1 paper

NM_007327.4

p.A640P

c.1918G>C

5 papers

NM_007327.4

p.G638A

c.1913G>C

1 paper

NM_007327.4

p.G638V

c.1913G>T

1 paper

NM_007327.4

p.G638S

c.1912G>A

4 papers

NM_007327.4

p.M641L

c.1921A>C