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

22 papers

NM_007327.4

p.M641I

c.1923G>T

Surrounding Variants

22 papers

NM_007327.4

p.M641I

c.1923G>A

22 papers

NM_007327.4

p.M641I

c.1923G>C

2 papers

NM_007327.4

p.I642L

c.1924A>C

1 paper

NM_007327.4

p.I642F

c.1924A>T

1 paper

NM_007327.4

p.M641K

c.1922T>A

4 papers

NM_007327.4

p.M641L

c.1921A>C

5 papers

NM_007327.4

p.M641V

c.1921A>G

4 papers

NM_007327.4

p.M641L

c.1921A>T

1 paper

NM_007327.4

p.I642T

c.1925T>C

1 paper

NM_007327.4

p.I643V

c.1927A>G

1 paper

NM_007327.4

p.A640P

c.1918G>C

1 paper

NM_007327.4

p.I643T

c.1928T>C