Varaico: Literature-Extracted Genetic Variants

Gene:GRID2IP
Variant:p.P753Q

GRID2IP

72 papers

RefSeq Summary

Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 inter...

Pfam Domains

PDZaa 10–79UCSCPDZ domain
PDZaa 89–163UCSCPDZ domain
FH2aa 629–997UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

Grid2 interacting protein

HGNC Previous Names

glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1; glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145118.2
p.P753Q
c.2258C>A
Surrounding Variants
1 paper
NM_001145118.2
p.P751P
c.2253A>C
1 paper
NM_001145118.2
p.P751Fs
c.2253delinsCAFs
2 papers
NM_001145118.2
p.P751Q
c.2252C>A
1 paper
NM_001145118.2
p.P756L
c.2267C>T
2 papers
NM_001145118.2
p.R772S
c.2314C>A
1 paper
NM_001145118.2
p.R724Q
c.2171G>A
1 paper
NM_001145118.2
p.P800P
c.2400A>G
1 paper
NM_001145118.2
p.L814L
c.2442G>C
2 papers
NM_001145118.2
p.S687S
c.2061C>T
1 paper
NM_001145118.2
p.R677H
c.2030G>A
1 paper
NM_001145118.2
p.R675*
c.2023C>T
1 paper
NM_001145118.2
p.R664H
c.1991G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."