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

6 papers

NM_007327.4

p.L551P

c.1652T>C

NM_001185090.2

p.L572P

c.1715T>C

Surrounding Variants

2 papers

NM_007327.4

p.D552A

c.1655A>C

3 papers

NM_007327.4

p.T550A

c.1648A>G

20 papers

NM_007327.4

p.D552E

c.1656C>A

20 papers

NM_007327.4

p.D552E

c.1656C>G

7 papers

NM_007327.4

p.S549R

c.1647C>A

7 papers

NM_007327.4

p.S549R

c.1647C>G

2 papers

NM_007327.4

p.S553A

c.1657T>G

3 papers

NM_007327.4

p.S553L

c.1658C>T

7 papers

NM_007327.4

p.S549R

c.1645A>C

1 paper

NM_007327.4

p.S549C

c.1645A>T

4 papers

NM_007327.4

p.R548Q

c.1643G>A

1 paper

NM_007327.4

p.R548fs

c.1642_1643fs