GRID1

Chr 10

glutamate ionotropic receptor delta type subunit 1

Also known as: GluD1, GluD1-b

NCBI Gene: 2894ENSG00000182771UniProt: Q9ULK0

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 plasticity.[provided by RefSeq, Jan 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.24
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.24LOEUF
pLI 0.999
Z-score 5.37
OE 0.12 (0.06–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.62Z-score
OE missense 0.82 (0.76–0.88)
509 obs / 622.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.12 (0.06–0.24)
0≤0.351.4
Missense OE?0.82 (0.76–0.88)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 5 / 43.1Missense obs/exp: 509 / 622.4Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GRID1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients