Article

TrioNsight: Building a meta-predictor to evaluate the clinical impact of TrioN-like Dbl-homology domain variants

2026-07-22

Abstract excerpt

TRIO is a member of the Rho family of guanine nucleotide exchange factors (Rho GEFs), which promote the exchange of GDP for GTP to activate Rho GTPases and serve as key regulators of cellular signalling pathways. Mutations in TRIO are associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders. TRIO contains two GEF units: one N-terminal and one C-terminal, each of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 268a302a-6eea-585d-8c8b-362ccd516a85
DOI: 10.64898/2026.07.17.739111

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

TrioNsight: Building a meta-predictor to evaluate the clinical impact of TrioN-like Dbl-homology domain variantsDOI 10.64898/2026.07.17.739111Read

Modeling human mutations to understand TRIO GEF function during development.Semantic proximity Read

Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephalySemantic proximity Read

Genetic variants linked to neurodevelopmental disorders within the β3-β4 loop of the TRIO PH2 domain release autoinhibition of GEF2 activitySemantic proximity Read

Characterizing and explaining impact of disease-associated mutations in proteins without known structures or structural homologuesSemantic proximity Read

Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs.Semantic proximity Read

A knowledge-based distance metric highlights underperformance of variant effect predictors on gain-of-function missense variantsSemantic proximity Read

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.Semantic proximity Read

LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.Semantic proximity Read

predatoR: an R package for network-based mutation impact predictionSemantic proximity Read

Using computational approaches to enhance the interpretation of missense variants in the<i>PAX6</i>geneSemantic proximity Read

PHACTboost: A Phylogeny-aware Boosting Algorithm to Compute the Pathogenicity of Missense MutationsSemantic proximity Read

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.Semantic proximity Read