Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

American journal of human genetics - 7 Jan 2021

Meili Fabian, Wei William J, Sin Wun-Chey, Meyers Warren M, Dascalu Iulia, Callaghan Daniel B, Rogic Sanja, Pavlidis Paul, Haas Kurt

Abstract excerpt

SYNGAP1 is a neuronal Ras and Rap GTPase-activating protein with important roles in regulating excitatory synaptic plasticity. While many SYNGAP1 missense and nonsense mutations have been associated with intellectual disability, epilepsy, schizophrenia, and autism spectrum disorder (ASD), whether and how they contribute to individual disease phenotypes is often unknown. Here, we characterize 57 variants in seven...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autism Spectrum Disorder
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

Share to HEK293 Cells

Share to Intellectual Disability

Share to Neurodevelopmental Disorders

Share to Protein Stability

Share to ras GTPase-Activating Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 33308442
DOI: 10.1016/j.ajhg.2020.11.011
PMCID: PMC7820741

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.PMID 33308442Read ↗

Multi-parametric analysis of 58 SYNGAP1 variants reveal impacts on GTPase signaling, localization and protein stabilitySemantic proximity Read ↗

Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.Semantic proximity Read ↗

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy.Semantic proximity Read ↗

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.Semantic proximity Read ↗

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.Semantic proximity Read ↗

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.Semantic proximity Read ↗

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.Semantic proximity Read ↗

Molecular Characterization and Genotype-phenotype Correlations of SYNGAP1 Variants in a Polish Pediatric Cohort With Neurodevelopmental DisordersSemantic proximity Read ↗

Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 EncephalopathySemantic proximity Read ↗

SYNGAP1-related disorder: pathophysiology, epilepsy, cognitive and behavioral phenotypes, and precision therapeutic approaches.Semantic proximity Read ↗

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental DisordersSemantic proximity Read ↗

Identification of an individual with a SYGNAP1 pathogenic mutation in India.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.