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.E811Q

c.2431G>C

Surrounding Variants

2 papers

NM_007327.4

p.E811A

c.2432A>C

1 paper

NM_007327.4

p.E811_N812del2

c.2431_2435del6

1 paper

NM_007327.4

p.F810C

c.2429T>G

1 paper

NM_007327.4

p.N812S

c.2435A>G

1 paper

NM_007327.4

p.M813_A814del2

c.2437_2441del6

1 paper

NM_007327.4

p.T809A

c.2425A>G

1 paper

NM_007327.4

p.M813V

c.2437A>G

1 paper

NM_007327.4

p.M813T

c.2438T>C

4 papers

NM_007327.4

p.A814D

c.2441C>A

1 paper

NM_007327.4

p.T807I

c.2420C>T

1 paper

NM_007327.4

p.T807A

c.2419A>G

25 papers

NM_007327.4

p.G815R

c.2443G>A