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.L657V

c.1969C>G

Surrounding Variants

1 paper

NM_007327.4

p.L657Q

c.1970T>A

4 papers

NM_007327.4

p.V656A

c.1967T>C

1 paper

NM_007327.4

p.D658N

c.1972G>A

1 paper

NM_007327.4

p.D658Y

c.1972G>T

1 paper

NM_007327.4

p.D658A

c.1973A>C

1 paper

NM_007327.4

p.D658G

c.1973A>G

3 papers

NM_007327.4

p.L655Q

c.1964T>A

1 paper

NM_007327.4

p.L655V

c.1963C>G

4 papers

NM_007327.4

p.R659W

c.1975C>T

2 papers

NM_007327.4

p.R659Q

c.1976G>A

NM_001185090.2

p.R680Q

c.2039G>A

1 paper

NM_007327.4

p.R659L

c.1976G>T

1 paper

NM_007327.4

p.F654S

c.1961T>C