Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R611G
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TSC2

NM_000548.5:p.R611G

Associated Papers

An integrated, scaled approach to resolve TSC2 variants of uncertain significance.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2026

Protocol to perform multiplexed assays of variant effect using curated loci prime editing.

Biar CG et al.

Star Protocols, 2025

40418630 (PubMed )
Supplement: mmc4.xlsx › Sheet1

New insights into tuberous sclerosis complex: from structure to pathogenesis.

Chen CS et al.

Frontiers in Cell and Developmental Biology, 2025

40655946 (PubMed )
Supplement: DataSheet1.pdf

Multimodal framework to resolve variants of uncertain significance in TSC2.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2024

38895336 (PubMed )
Supplement: media-2.xlsx › Table_S4

Architecture of the Tuberous Sclerosis Protein Complex.

Ramlaul K et al.

Journal of Molecular Biology, 2021

33307091 (PubMed )
Supplement: mmc1.pdf

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.

Salussolia CL et al.

Annual Review of Genomics and Human Genetics, 2019

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S et al.

Molecular Autism, 2013

23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."