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

2 papers

NM_007327.4

p.V793F

c.2377G>T

Surrounding Variants

1 paper

NM_007327.4

p.W792L

c.2375G>T

1 paper

NM_007327.4

p.R794R

c.2380C>A

6 papers

NM_007327.4

p.R794Q

c.2381G>A

1 paper

NM_007327.4

p.R794L

c.2381G>T

3 papers

NM_007327.4

p.D789N

c.2365G>A

1 paper

NM_007327.4

p.L788L

c.2364G>A

1 paper

NM_007327.4

p.C798S

c.2392T>A

1 paper

NM_007327.4

p.C798S

c.2393G>C

1 paper

NM_007327.4

p.E786A

c.2357A>C

1 paper

NM_007327.4

p.R801L

c.2402G>T

1 paper

NM_007327.4

p.G783delFs

c.2349delC

1 paper

NM_001185090.2

p.N824Y

c.2470A>T