GABRR1

Chr 6

gamma-aminobutyric acid type A receptor subunit rho1

NCBI Gene: 2569ENSG00000146276UniProt: P24046

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

86
ClinVar variants
14
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— GABRR1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 68 VUS of 86 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.25LOEUF
pLI 0.000
Z-score 0.59
OE 0.87 (0.62–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.73Z-score
OE missense 0.88 (0.79–0.98)
256 obs / 290.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.87 (0.62–1.25)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.01
0≤1.21.6
LoF obs/exp: 22 / 25.2Missense obs/exp: 256 / 290.9Syn Z: -0.04

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS68
Likely Benign3
Benign1
14
Pathogenic
68
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
61
7
0
68
Likely Benign
0
2
0
1
3
Benign
0
0
0
1
1
Total06321286

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GABRR1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
The GABA receptor GABRR1 is expressed on and functional in hematopoietic stem cells and megakaryocyte progenitors.
Zhu F et al.·Proc Natl Acad Sci U S A
2019Functional
Identification of novel diagnostic and prognostic biomarkers for hepatocellular carcinoma.
Wang F et al.·Oncol Rep
2020
Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.
Jiménez-Jiménez FJ et al.·Pharmacogenomics J
2018
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
van Lith-Verhoeven JJ et al.·Invest Ophthalmol Vis Sci
2004
Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.
García-Martín E et al.·J Neurol
2011
Overweight/obesity-related transcriptomic signature as a correlate of clinical outcome, immune microenvironment, and treatment response in hepatocellular carcinoma.
Feng NN et al.·Front Endocrinol (Lausanne)
2023
Interactions between genetic variants and near-work activities in incident myopia in schoolchildren: a 4-year prospective longitudinal study.
Lin Y et al.·Clin Exp Optom
2023Natural history
A comprehensive understanding of ovarian carcinoma survival prognosis by novel biomarkers.
Wang Y et al.·Eur Rev Med Pharmacol Sci
2019
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
van Zuydam NR et al.·Diabetes
2018
[Gene expression profile of medullary thyroid carcinoma--preliminary results].
Oczko-Wojciechowska M et al.·Endokrynol Pol
2006
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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