Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1743P
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TSC2

NM_000548.5:p.R1743P

Associated Papers

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

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

Design of negative-regulating proteins of Rheb/mTORC1 with much-reduced sizes of the tuberous sclerosis protein complex.

Fu W et al.

Protein Science : a Publication of the Protein Society, 2023

Architecture of the Tuberous Sclerosis Protein Complex.

Ramlaul K et al.

Journal of Molecular Biology, 2021

33307091 (PubMed )
Supplement: mmc1.pdf

The genomic landscape of tuberous sclerosis complex.

Martin KR et al.

Nature Communications, 2017

28643795 (PubMed )
Supplement: ncomms15816-s3.xlsx › Supp_Data_2

A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.

Zhang J et al.

Nature Cell Biology, 2013

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

Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex.

Pompili G et al.

European Journal of Radiology, 2009

Insight into catalysis of a unique GTPase reaction by a combined biochemical and FTIR approach.

Chakrabarti PP et al.

Journal of Molecular Biology, 2007

A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.

Ichikawa T et al.

The Journal of Molecular Diagnostics : Jmd, 2005

Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis.

Jones AC et al.

Clinical Chemistry, 1999

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC et al.

American Journal of Human Genetics, 1999

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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."