QRICH1

Chr 3

glutamine rich 1

Also known as: AB-DIP, VERBRAS, VERBRAS1

NCBI Gene: 54870 ENSG00000198218 UniProt: Q2TAL8

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.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Enables DNA binding activity. Involved in intracellular signal transduction; positive regulation of DNA-templated transcription; and positive regulation of apoptotic process. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtVerveri-Brady syndrome 1

Clinical highlights

Gene-disease validity (ClinGen)

syndromic complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.28

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429