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.N650S

c.1949A>G

Surrounding Variants

1 paper

NM_007327.4

p.N650T

c.1949A>C

3 papers

NM_007327.4

p.N650I

c.1949A>T

17 papers

NM_007327.4

p.N650K

c.1950C>A

17 papers

NM_007327.4

p.N650K

c.1950C>G

2 papers

NM_007327.4

p.L651V

c.1951C>G

1 paper

NM_007327.4

p.L651P

c.1952T>C

1 paper

NM_007327.4

p.A649T

c.1945G>A

1 paper

NM_007327.4

p.A649S

c.1945G>T

2 papers

NM_007327.4

p.A652T

c.1954G>A

2 papers

NM_007327.4

p.A652P

c.1954G>C

1 paper

NM_007327.4

p.A652E

c.1955C>A

1 paper

NM_007327.4

p.A652G

c.1955C>G