QRICH1

Chr 3AD

glutamine rich 1

Also known as: AB-DIP, VERBRAS, VERBRAS1

NCBI Gene: 54870ENSG00000198218UniProt: Q2TAL8OMIM: 617387

The QRICH1 protein binds DNA and functions as a transcriptional activator while also promoting apoptosis through intracellular signaling pathways. Loss-of-function mutations cause Ververi-Brady syndrome 1, an autosomal dominant neurodevelopmental disorder. The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the disease mechanism.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
LOFmechanismADLOEUF 0.281 OMIM phenotype
Clinical Summary— QRICH1
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Gene-Disease Validity (ClinGen)
syndromic complex neurodevelopmental disorder · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.28LOEUF
pLI 0.996
Z-score 4.98
OE 0.13 (0.07–0.28)
Highly constrained

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

Missense Constraint
3.71Z-score
OE missense 0.49 (0.44–0.55)
211 obs / 426.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.13 (0.07–0.28)
0≤0.351.4
Missense OE0.49 (0.44–0.55)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 5 / 38.2Missense obs/exp: 211 / 426.7Syn Z: -0.47
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveQRICH1-related syndromeLOFAD
DN
0.2499th %ile
GOF
0.2597th %ile
LOF
0.77top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · 1 literature citation · LOEUF 0.28

Literature Evidence

LOFThese findings suggest that haploinsufficiency of QRICH1 could affect multiple organ systems, including brain and bone.PMID:30281152

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

QRICH1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Role of Qrich1-mediated endoplasmic reticulum stress pathway in Berberine inhibition of NF-κB activation induced by cerebral ischemia-reperfusion injury.
Li J et al.·J Stroke Cerebrovasc Dis
2026
QRICH1, as a key effector of endoplasmic reticulum stress, enhances HBV in promoting HMGB1 translocation and secretion in hepatocytes.
Feng Y et al.·Immunobiology
2025
QRICH1 regulates ATF6 transcription to affect pathological cardiac hypertrophy progression.
Zhang L et al.·Mol Med
2025Open Access
Study on the Mechanism of QRICH1 Mediating PRMT1 to Regulate the Arginine Methylation Modification of cGAS to Promote Arsenics-Induced Pyroptosis in Hepatocellular Carcinoma Cells.
Zhang J et al.·J Hepatocell Carcinoma
2025Open AccessFunctional
QRICH1 mediates an intracellular checkpoint for CD8+ T cell activation via the CARD11 signalosome.
Carter NM et al.·Sci Immunol
2025
Top 5 resultsSearch Europe PMC ↗

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