Publications:

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Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: R1743P

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TSC2: R1743P

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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The genomic landscape of tuberous sclerosis complex.

Nature Communications

Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP

Publication Date: 2017-06-15

Variant appearance in text: TSC2: 5228G>C; Arg1743Pro

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: TSC2: R1743P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: R1743P

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

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

The Journal Of Molecular Diagnostics : Jmd

Ichikawa, Tomotsugu T; Wakisaka, Akiko A; Daido, Shigeru S; Takao, Soichiro S; Tamiya, Takashi T; Date, Isao I; Koizumi, Shoichi S; Niida, Yo Y

Publication Date: 2005-10

Variant appearance in text: TSC2: R1743P

PubMed Link: 16237225

Variant Present in the following documents:

• Main text

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