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.M818R

c.2453T>G

Surrounding Variants

5 papers

NM_007327.4

p.M818T

c.2453T>C

2 papers

NM_007327.4

p.M818L

c.2452A>C

1 paper

NM_007327.4

p.M818V

c.2452A>G

2 papers

NM_007327.4

p.M818L

c.2452A>T

9 papers

NM_007327.4

p.F817L

c.2451C>A

NM_001185090.2

p.F838L

c.2514C>A

9 papers

NM_007327.4

p.F817L

c.2451C>G

NM_001185090.2

p.F838L

c.2514C>G

1 paper

NM_007327.4

p.F817C

c.2450T>G

9 papers

NM_007327.4

p.F817L

c.2449T>C

NM_001185090.2

p.F838L

c.2512T>C

1 paper

NM_007327.4

p.V816V

c.2448C>T

2 papers

NM_007327.4

p.V820A

c.2459T>C

1 paper

NM_007327.4

p.V816I

c.2446G>A

2 papers

NM_007327.4

p.G815V

c.2444G>T