Varaico: Literature-Extracted Genetic Variants

Gene:GRID2IP
Variant:p.L507F

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
2 papers
NM_001145118.2
p.L507F
c.1519C>T
Surrounding Variants
2 papers
NM_001145118.2
p.R504C
c.1510C>T
1 paper
NM_001145118.2
p.P491insFs
c.1473dupC
1 paper
NM_001145118.2
p.Q492fs
c.1474_1475fs
1 paper
NM_001145118.2
p.E484*
c.1450G>T
1 paper
NM_001145118.2
p.E522K
c.1564G>A
1 paper
NM_001145118.2
p.E534K
c.1600G>A
1 paper
NM_001145118.2
p.K550N
c.1650G>T
1 paper
NM_001145118.2
p.K550N
c.1650G>C
1 paper
NM_001145118.2
p.L559I
c.1675C>A
1 paper
NM_001145118.2
p.S575P
c.1723T>C
1 paper
NM_001145118.2
p.T659P
c.1975A>C
1 paper
NM_001145118.2
p.P661P
c.1983G>C
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