Varaico: Literature-Extracted Genetic Variants

GRID1

143 papers

RefSeq Summary

This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasti...

Pfam Domains

ANF_receptoraa 36–402UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 437–549UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 562–842UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor delta type subunit 1

HGNC Alias Symbol

KIAA1220

Papers

RefSeq ID

Protein change

DNA change

1–12 of 223 variants

5 papers

NM_017551.3

p.V529I

c.1585G>A

4 papers

NM_017551.3

p.T752M

c.2255C>T

3 papers

NM_017551.3

p.R148C

c.442C>T

3 papers

NM_017551.3

p.R161H

c.482G>A

3 papers

NM_017551.3

p.P286L

c.857C>T

3 papers

NM_017551.3

p.A650T

c.1948G>A

2 papers

NM_017551.3

p.Q117E

c.349C>G

2 papers

NM_017551.3

p.P120Q

c.359C>A

2 papers

NM_017551.3

p.P146L

c.437C>T

2 papers

NM_017551.3

p.R161C

c.481C>T

2 papers

NM_017551.3

p.M167V

c.499A>G

2 papers

NM_017551.3

p.K199R

c.596A>G