TSC2 c.1832G>A ;(p.R611Q)

Variant ID: 16-2120572-G-A

NM_000548.3(TSC2):c.1832G>A;(p.R611Q)

This variant was identified in 49 publications

View GRCh38 version.




Publications:


mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion.

Nature Communications
Liu, Heng-Jia HJ; Du, Heng H; Khabibullin, Damir D; Zarei, Mahsa M; Wei, Kevin K; Freeman, Gordon J GJ; Kwiatkowski, David J DJ; Henske, Elizabeth P EP
Publication Date: 2023-03-03

Variant appearance in text: TSC2: R611Q
PubMed Link: 36869048
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_36881.pdf
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: TSC2: R611Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Jama Neurology
McKnight, Dianalee D; Morales, Ana A; Hatchell, Kathryn E KE; Bristow, Sara L SL; Bonkowsky, Joshua L JL; Perry, Michael Scott MS; Berg, Anne T AT; Borlot, Felippe F; Esplin, Edward D ED; Moretz, Chad C; Angione, Katie K; Ríos-Pohl, Loreto L; Nussbaum, Robert L RL; Aradhya, Swaroop S; , ; Haldeman-Englert, Chad R CR; Levy, Rebecca J RJ; Parachuri, Venu G VG; Lay-Son, Guillermo G; de Montellano, David J Dávila-Ortiz DJD; Ramirez-Garcia, Miguel Angel MA; Benítez Alonso, Edmar O EO; Ziobro, Julie J; Chirita-Emandi, Adela A; Felix, Temis M TM; Kulasa-Luke, Dianne D; Megarbane, Andre A; Karkare, Shefali S; Chagnon, Sarah L SL; Humberson, Jennifer B JB; Assaf, Melissa J MJ; Silva, Sebastian S; Zarroli, Katherine K; Boyarchuk, Oksana O; Nelson, Gary R GR; Palmquist, Rachel R; Hammond, Katherine C KC; Hwang, Sean T ST; Boutlier, Susan B SB; Nolan, Melinda M; Batley, Kaitlin Y KY; Chavda, Devraj D; Reyes-Silva, Carlos Alberto CA; Miroshnikov, Oleksandr O; Zuccarelli, Britton B; Amlie-Wolf, Louise L; Wheless, James W JW; Seinfeld, Syndi S; Kanhangad, Manoj M; Freeman, Jeremy L JL; Monroy-Santoyo, Susana S; Rodriguez-Vazquez, Natalia N; Ryan, Monique M MM; Machie, Michelle M; Guerra, Patricio P; Hassan, Muhammad Jawad MJ; Candee, Meghan S MS; Bupp, Caleb P CP; Park, Kristen L KL; Muller, Eric E; Lupo, Pamela P; Pedersen, Robert C RC; Arain, Amir M AM; Murphy, Andrea A; Schatz, Krista K; Mu, Weiyi W; Kalika, Paige M PM; Plaza, Lautaro L; Kellogg, Marissa A MA; Lora, Evelyn G EG; Carson, Robert P RP; Svystilnyk, Victoria V; Venegas, Viviana V; Luke, Rebecca R RR; Jiang, Huiyuan H; Stetsenko, Tetiana T; Dueñas-Roque, Milagros M MM; Trasmonte, Joseph J; Burke, Rebecca J RJ; Hurst, Anna C E ACE; Smith, Douglas M DM; Massingham, Lauren J LJ; Pisani, Laura L; Costin, Carrie E CE; Ostrander, Betsy B; Filloux, Francis M FM; Ananth, Amitha L AL; Mohamed, Ismail S IS; Nechai, Alla A; Dao, Jasmin M JM; Fahey, Michael C MC; Aliu, Ermal E; Falchek, Stephen S; Press, Craig A CA; Treat, Lauren L; Eschbach, Krista K; Starks, Angela A; Kammeyer, Ryan R; Bear, Joshua J JJ; Jacobson, Mona M; Chernuha, Veronika V; Meibos, Bailey B; Wong, Kristen K; Sweney, Matthew T MT; Espinoza, A Chris AC; Van Orman, Colin B CB; Weinstock, Arie A; Kumar, Ashutosh A; Soler-Alfonso, Claudia C; Nolan, Danielle A DA; Raza, Muhammad M; Rojas Carrion, Miguel David MD; Chari, Geetha G; Marsh, Eric D ED; Shiloh-Malawsky, Yael Y; Parikh, Sumit S; Gonzalez-Giraldo, Ernesto E; Fulton, Stephen S; Sogawa, Yoshimi Y; Burns, Kaitlyn K; Malets, Myroslava M; Montiel Blanco, Johnny David JD; Habela, Christa W CW; Wilson, Carey A CA; Guzmán, Guillermo G GG; Pavliuk, Mariia M
Publication Date: 2022-10-31

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 36315135
Variant Present in the following documents:
  • jamaneurol-e223651-s001.pdf
View BVdb publication page



Beyond Protein Synthesis; The Multifaceted Roles of Tuberin in Cell Cycle Regulation.

Frontiers In Cell And Developmental Biology
Fidalgo da Silva, E E; Fong, J J; Roye-Azar, A A; Nadi, A A; Drouillard, C C; Pillon, A A; Porter, L A LA
Publication Date: 2021

Variant appearance in text: TSC2: R611Q
PubMed Link: 35096832
Variant Present in the following documents:
  • Main text
  • fcell-09-806521.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: TSC2: R611Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.

Nature Communications
Sethna, Saumil S; Scott, Patrick A PA; Giese, Arnaud P J APJ; Duncan, Todd T; Jian, Xiaoying X; Riazuddin, Sheikh S; Randazzo, Paul A PA; Redmond, T Michael TM; Bernstein, Steven L SL; Riazuddin, Saima S; Ahmed, Zubair M ZM
Publication Date: 2021-06-23

Variant appearance in text: TSC2: Arg611Gln
PubMed Link: 34162842
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_24056.pdf
View BVdb publication page



Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Bennett, Jennifer A JA; Ordulu, Zehra Z; Pinto, Andre A; Wanjari, Pankhuri P; Antonescu, Cristina R CR; Ritterhouse, Lauren L LL; Oliva, Esther E
Publication Date: 2022-04

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 34131293
Variant Present in the following documents:
  • NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx, sheet 1
View BVdb publication page



Everolimus in Invasive Malignant Renal Epithelioid Angiomyolipoma.

Frontiers In Oncology
Guo, Gang G; Gu, Liangyou L; Zhang, Xu X
Publication Date: 2020

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 33575217
Variant Present in the following documents:
  • Main text
  • fonc-10-610858.pdf
View BVdb publication page



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: R611Q
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Only those who attempt the absurd will reach the impossible. High-flow nasal cannula oxygen therapy alone during weaning after extubation in a patient with tuberous sclerosis complex and lymphangioleiomyomatosis.

Anaesthesiology Intensive Therapy
Lanza, Maurizia M; Imitazione, Pasquale P; Musella, Salvatore S; Annunziata, Anna A; Fiorentino, Giuseppe G
Publication Date: 2020

Variant appearance in text: TSC2: 1832G>A; R611Q
PubMed Link: 32876418
Variant Present in the following documents:
  • Main text
  • AIT-52-41423.pdf
View BVdb publication page



mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance.

Frontiers In Immunology
Ludwig, Kristin K; Husain, Ralf A RA; Rubio, Ignacio I
Publication Date: 2020

Variant appearance in text: TSC2: 1832G>A
PubMed Link: 32849516
Variant Present in the following documents:
  • Main text
  • fimmu-11-01515.pdf
View BVdb publication page



Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Publication Date: 2020-06-18

Variant appearance in text: TSC2: Arg611Gln
PubMed Link: 32555378
Variant Present in the following documents:
  • Main text
  • 41598_2020_66588_MOESM1_ESM.pdf
  • 41598_2020_Article_66588.pdf
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports
Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A
Publication Date: 2020-04-20

Variant appearance in text: TSC2: 1832G>A; rs28934872
PubMed Link: 32313033
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_62759.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: TSC2: R611Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 1832G>A
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Human Mutation
Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M
Publication Date: 2020-04

Variant appearance in text: TSC2: 1832G>A; R611Q
PubMed Link: 31799751
Variant Present in the following documents:
  • Main text
  • HUMU-41-759.pdf
View BVdb publication page



Profiling of Circulating Free DNA Using Targeted and Genome-wide Sequencing in Patients with SCLC.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Mohan, Sumitra S; Foy, Victoria V; Ayub, Mahmood M; Leong, Hui Sun HS; Schofield, Pieta P; Sahoo, Sudhakar S; Descamps, Tine T; Kilerci, Bedirhan B; Smith, Nigel K NK; Carter, Mathew M; Priest, Lynsey L; Zhou, Cong C; Carr, T Hedley TH; Miller, Crispin C; Faivre-Finn, Corinne C; Blackhall, Fiona F; Rothwell, Dominic G DG; Dive, Caroline C; Brady, Gerard G
Publication Date: 2020-02

Variant appearance in text: TSC2: 1832G>A; R611Q
PubMed Link: 31629061
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: TSC2: 1832G>A; R611Q
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy: A case report.

Medicine
Liu, Xuncan X; Zhang, Yanfeng Y; Hao, Yunpeng Y; Chen, Yinbo Y; Chen, Chen C
Publication Date: 2019-05

Variant appearance in text: TSC2: 1832G>A; R611Q
PubMed Link: 31083211
Variant Present in the following documents:
  • Main text
  • medi-98-e15545.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Nieto-González, Jose L JL; Gómez-Sánchez, Leonardo L; Mavillard, Fabiola F; Linares-Clemente, Pedro P; Rivero, María C MC; Valenzuela-Villatoro, Marina M; Muñoz-Bravo, José L JL; Pardal, Ricardo R; Fernández-Chacón, Rafael R
Publication Date: 2019-04-16

Variant appearance in text: TSC2: R611Q
PubMed Link: 30926666
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine
Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A
Publication Date: 2018-11

Variant appearance in text: TSC2: 1832G>A; Arg611Gln; rs28934872
PubMed Link: 30293248
Variant Present in the following documents:
  • Main text
  • MGG3-6-1041.pdf
View BVdb publication page



The Lymphangioleiomyomatosis Lung Cell and Its Human Cell Models.

American Journal Of Respiratory Cell And Molecular Biology
Steagall, Wendy K WK; Pacheco-Rodriguez, Gustavo G; Darling, Thomas N TN; Torre, Olga O; Harari, Sergio S; Moss, Joel J
Publication Date: 2018-06

Variant appearance in text: TSC2: R611Q
PubMed Link: 29406787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.

Croatian Medical Journal
Živčić-Ćosić, Stela S; Mayer, Karin K; Đorđević, Gordana G; Nellist, Mark M; Hoogeveen-Westerveld, Marianne M; Miletić, Damir D; Rački, Sanjin S; Klein, Hanns-Georg HG; Trobonjača, Zlatko Z
Publication Date: 2017-12-31

Variant appearance in text: TSC2: 1832G>A
PubMed Link: 29308833
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Oncotarget
Bongaarts, Anika A; Giannikou, Krinio K; Reinten, Roy J RJ; Anink, Jasper J JJ; Mills, James D JD; Jansen, Floor E FE; Spliet, G M Wim GMW; den Dunnen, Willfred F A WFA; Coras, Roland R; Blümcke, Ingmar I; Paulus, Werner W; Scholl, Theresa T; Feucht, Martha M; Kotulska, Katarzyna K; Jozwiak, Sergiusz S; Buccoliero, Anna Maria AM; Caporalini, Chiara C; Giordano, Flavio F; Genitori, Lorenzo L; Söylemezoğlu, Figen F; Pimentel, José J; Nellist, Mark M; Schouten-van Meeteren, Antoinette Y N AYN; Nag, Anwesha A; Mühlebner, Angelika A; Kwiatkowski, David J DJ; Aronica, Eleonora E
Publication Date: 2017-11-10

Variant appearance in text: TSC2: 1832G>A
PubMed Link: 29221145
Variant Present in the following documents:
  • Main text
  • oncotarget-08-95516.pdf
View BVdb publication page



Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability.

Nature Communications
Jäkel, Cornelia C; Bergmann, Frank F; Toth, Reka R; Assenov, Yassen Y; van der Duin, Daniel D; Strobel, Oliver O; Hank, Thomas T; Klöppel, Günter G; Dorrell, Craig C; Grompe, Markus M; Moss, Joshua J; Dor, Yuval Y; Schirmacher, Peter P; Plass, Christoph C; Popanda, Odilia O; Schmezer, Peter P
Publication Date: 2017-11-06

Variant appearance in text: TSC2: 1832G>A; R611Q; rs28934872
PubMed Link: 29109526
Variant Present in the following documents:
  • 41467_2017_1118_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: 1832G>A; Arg611Gln
PubMed Link: 28643795
Variant Present in the following documents:
  • ncomms15816-s3.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: TSC2: R611Q
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation.

Molecular Brain
Hwang, Su-Kyeong SK; Lee, Jae-Hyung JH; Yang, Jung-Eun JE; Lim, Chae-Seok CS; Lee, Jin-A JA; Lee, Yong-Seok YS; Lee, Kyungmin K; Kaang, Bong-Kiun BK
Publication Date: 2016-05-23

Variant appearance in text: TSC2: R611Q
PubMed Link: 27216612
Variant Present in the following documents:
  • Main text
  • 13041_2016_Article_222.pdf
View BVdb publication page



Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Human Mutation
Ekong, Rosemary R; Nellist, Mark M; Hoogeveen-Westerveld, Marianne M; Wentink, Marjolein M; Panzer, Jessica J; Sparagana, Steven S; Emmett, Warren W; Dawson, Natalie L NL; Malinge, Marie Claire MC; Nabbout, Rima R; Carbonara, Caterina C; Barberis, Marco M; Padovan, Sergio S; Futema, Marta M; Plagnol, Vincent V; Humphries, Steve E SE; Migone, Nicola N; Povey, Sue S
Publication Date: 2016-04

Variant appearance in text: TSC2: R611Q
PubMed Link: 26703369
Variant Present in the following documents:
  • Main text
  • HUMU-37-364.pdf
View BVdb publication page



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: R611Q
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Human Mutation
Karbassi, Izabela I; Maston, Glenn A GA; Love, Angela A; DiVincenzo, Christina C; Braastad, Corey D CD; Elzinga, Christopher D CD; Bright, Alison R AR; Previte, Domenic D; Zhang, Ke K; Rowland, Charles M CM; McCarthy, Michele M; Lapierre, Jennifer L JL; Dubois, Felicita F; Medeiros, Katelyn A KA; Batish, Sat Dev SD; Jones, Jeffrey J; Liaquat, Khalida K; Hoffman, Carol A CA; Jaremko, Malgorzata M; Wang, Zhenyuan Z; Sun, Weimin W; Buller-Burckle, Arlene A; Strom, Charles M CM; Keiles, Steven B SB; Higgins, Joseph J JJ
Publication Date: 2016-01

Variant appearance in text: TSC2: 1832G>A
PubMed Link: 26467025
Variant Present in the following documents:
  • HUMU-37-127-s001.pdf
View BVdb publication page



Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12

Variant appearance in text: TSC2: 1832G>A; Arg611Gln
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x2.xls, sheet 1
View BVdb publication page



Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15

Variant appearance in text: TSC2: 1832G>A; R611Q
PubMed Link: 24271014
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MicroRNA-21 is induced by rapamycin in a model of tuberous sclerosis (TSC) and lymphangioleiomyomatosis (LAM).

Plos One
Trindade, Anil J AJ; Medvetz, Douglas A DA; Neuman, Nicole A NA; Myachina, Faina F; Yu, Jane J; Priolo, Carmen C; Henske, Elizabeth P EP
Publication Date: 2013

Variant appearance in text: TSC2: R611Q
PubMed Link: 23555865
Variant Present in the following documents:
  • Main text
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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: R611Q
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
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The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits.

Bmc Biochemistry
Hoogeveen-Westerveld, Marianne M; van Unen, Leontine L; van den Ouweland, Ans A; Halley, Dicky D; Hoogeveen, Andre A; Nellist, Mark M
Publication Date: 2012-09-24

Variant appearance in text: TSC2: R611Q
PubMed Link: 23006675
Variant Present in the following documents:
  • Main text
  • 1471-2091-13-18.pdf
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Real-time monitoring of tumorigenesis, dissemination, & drug response in a preclinical model of lymphangioleiomyomatosis/tuberous sclerosis complex.

Plos One
Liu, Fangbing F; Lunsford, Elaine P EP; Tong, Jingli J; Ashitate, Yoshitomo Y; Gibbs, Summer L SL; Yu, Jane J; Choi, Hak Soo HS; Henske, Elizabeth P EP; Frangioni, John V JV
Publication Date: 2012

Variant appearance in text: TSC2: Arg611Gln
PubMed Link: 22719903
Variant Present in the following documents:
  • Main text
  • pone.0038589.pdf
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Genetics and molecular biology of tuberous sclerosis complex.

Current Genomics
Napolioni, Valerio V; Curatolo, Paolo P
Publication Date: 2008-11

Variant appearance in text: tuberin: R611Q
PubMed Link: 19506736
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Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells.

American Journal Of Respiratory Cell And Molecular Biology
Lee, Po-Shun PS; Tsang, Szeman W SW; Moses, Marsha A MA; Trayes-Gibson, Zachary Z; Hsiao, Li-Li LL; Jensen, Roderick R; Squillace, Rachel R; Kwiatkowski, David J DJ
Publication Date: 2010-02

Variant appearance in text: TSC2: R611Q
PubMed Link: 19395678
Variant Present in the following documents:
  • Main text
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A reliable cell-based assay for testing unclassified TSC2 gene variants.

European Journal Of Human Genetics : Ejhg
Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M
Publication Date: 2009-03

Variant appearance in text: TSC2: R611Q
PubMed Link: 18854862
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Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.

Cellular Signalling
Han, Sangyeul S; Witt, Rochelle M RM; Santos, Túlio M TM; Polizzano, Carolyn C; Sabatini, Bernardo L BL; Ramesh, Vijaya V
Publication Date: 2008-06

Variant appearance in text: TSC2: R611Q
PubMed Link: 18308511
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  • Main text
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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Bmc Medical Genetics
Nellist, Mark M; Sancak, Ozgür O; Goedbloed, Miriam M; Adriaans, Alwin A; Wessels, Marja M; Maat-Kievit, Anneke A; Baars, Marieke M; Dommering, Charlotte C; van den Ouweland, Ans A; Halley, Dicky D
Publication Date: 2008-02-26

Variant appearance in text: TSC2: R611Q
PubMed Link: 18302728
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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics
Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN
Publication Date: 2006-09-18

Variant appearance in text: TSC2: 1832G>A; R611Q
PubMed Link: 16981987
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-72.pdf
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Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

Molecular And Cellular Biology
Li, Yong Y; Inoki, Ken K; Guan, Kun-Liang KL
Publication Date: 2004-09

Variant appearance in text: TSC2: R611Q
PubMed Link: 15340059
Variant Present in the following documents:
  • Main text
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