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.R844L

c.2531G>T

Surrounding Variants

1 paper

NM_007327.4

p.R844P

c.2531G>C

16 papers

NM_007327.4

p.R844C

c.2530C>T

1 paper

NM_007327.4

p.Q847*

c.2539C>T

1 paper

NM_007327.4

p.R839W

c.2515C>T

1 paper

NM_007327.4

p.A836T

c.2506G>A

1 paper

NM_007327.4

p.A836P

c.2506G>C

1 paper

NM_007327.4

p.E834A

c.2501A>C

2 papers

NM_007327.4

p.E834Q

c.2500G>C

1 paper

NM_007327.4

p.V855I

c.2563G>A

1 paper

NM_007327.4

p.I828V

c.2482A>G

2 papers

NM_007327.4

p.G827A

c.2480G>C

1 paper

NM_007327.4

p.N861K

c.2583C>A