Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1159Q
Back to variants list

TSC2

NM_000548.5:p.R1159Q

Associated Papers

Exceptional therapeutic benefit of imatinib in cKIT-mutated mucosal melanoma followed by a KIT mutation loss.

Zillikens H et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025

Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma.

Seligson ND et al.

Jama Network Open, 2019

31577358 (PubMed )
Supplement: jamanetwopen-2-e1912416-s001.pdf

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

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M et al.

Human Mutation, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."