TSC2 c.2580T>C ;(p.F860=)

Variant ID: 16-2125834-T-C

NM_000548.3(TSC2):c.2580T>C;(p.F860=)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs13337626
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: TSC2: F860F; rs13337626
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: TSC2: 2580T>C; Phe860=; rs13337626
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: TSC2: 2580T>C; Phe860Phe; rs13337626
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: TSC2: 2580T>C; rs13337626
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: TSC2: 2580T>C; rs13337626
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: TSC2: 2580T>C; Phe860=; rs13337626
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: TSC2: F860F; rs13337626
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: TSC2: F860F; rs13337626
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s004.xlsx, sheet 1
View BVdb publication page



Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett's Esophagus.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
Dong, Jing J; Levine, David M DM; Buas, Matthew F MF; Zhang, Rui R; Onstad, Lynn L; Fitzgerald, Rebecca C RC; , ; Corley, Douglas A DA; Shaheen, Nicholas J NJ; Lagergren, Jesper J; Hardie, Laura J LJ; Reid, Brian J BJ; Iyer, Prasad G PG; Risch, Harvey A HA; Caldas, Carlos C; Caldas, Isabel I; Pharoah, Paul D PD; Liu, Geoffrey G; Gammon, Marilie D MD; Chow, Wong-Ho WH; Bernstein, Leslie L; Bird, Nigel C NC; Ye, Weimin W; Wu, Anna H AH; Anderson, Lesley A LA; MacGregor, Stuart S; Whiteman, David C DC; Vaughan, Thomas L TL; Thrift, Aaron P AP
Publication Date: 2018-10

Variant appearance in text: rs13337626
PubMed Link: 29551738
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

Scientific Reports
Avgeris, Socratis S; Fostira, Florentia F; Vagena, Andromachi A; Ninios, Yiannis Y; Delimitsou, Angeliki A; Vodicka, Radek R; Vrtel, Radek R; Youroukos, Sotirios S; Stravopodis, Dimitrios J DJ; Vlassi, Metaxia M; Astrinidis, Aristotelis A; Yannoukakos, Drakoulis D; Voutsinas, Gerassimos E GE
Publication Date: 2017-12-01

Variant appearance in text: TSC2: 2580T>C; Phe860Phe
PubMed Link: 29196670
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16988.pdf
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: 2580T>C; Phe860=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: TSC2: F860F; rs13337626
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 1
  • srep30457-s2.xls, sheet 2
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: TSC2: F860F; rs13337626
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: TSC2: 2580T>C; F860F; rs13337626
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TSC2: F860F; rs13337626
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One
Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D
Publication Date: 2012

Variant appearance in text: TSC2: 2580T>C; F860F
PubMed Link: 22558107
Variant Present in the following documents:
  • pone.0035003.s004.pdf
View BVdb publication page



Genetic associations with sporadic neuroendocrine tumor risk.

Carcinogenesis
Ter-Minassian, Monica M; Wang, Zhaoxi Z; Asomaning, Kofi K; Wu, Michael C MC; Liu, Chen-Yu CY; Paulus, Jessica K JK; Liu, Geoffrey G; Bradbury, Penelope A PA; Zhai, Rihong R; Su, Li L; Frauenhoffer, Christine S CS; Hooshmand, Susanne M SM; De Vivo, Immaculata I; Lin, Xihong X; Christiani, David C DC; Kulke, Matthew H MH
Publication Date: 2011-08

Variant appearance in text: rs13337626
PubMed Link: 21606320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variability of the mTOR pathway and prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).

Plos One
Campa, Daniele D; Hüsing, Anika A; Stein, Angelika A; Dostal, Lucie L; Boeing, Heiner H; Pischon, Tobias T; Tjønneland, Anne A; Roswall, Nina N; Overvad, Kim K; Østergaard, Jane Nautrup JN; Rodríguez, Laudina L; Sala, Núria N; Sánchez, Maria-José MJ; Larrañaga, Nerea N; Huerta, José María JM; Barricarte, Aurelio A; Khaw, Kay-Tee KT; Wareham, Nicholas N; Travis, Ruth C RC; Allen, Naomi E NE; Lagiou, Pagona P; Trichopoulou, Antonia A; Trichopoulos, Dimitrios D; Palli, Domenico D; Sieri, Sabina S; Tumino, Rosario R; Sacerdote, Carlotta C; van Kranen, Henk H; Bueno-de-Mesquita, H Bas HB; Hallmans, Göran G; Johansson, Mattias M; Romieu, Isabelle I; Jenab, Mazda M; Cox, David G DG; Siddiq, Afshan A; Riboli, Elio E; Canzian, Federico F; Kaaks, Rudolf R
Publication Date: 2011-02-23

Variant appearance in text: rs13337626
PubMed Link: 21373201
Variant Present in the following documents:
  • Main text
  • pone.0016914.pdf
View BVdb publication page



Biallelic TSC gene inactivation in tuberous sclerosis complex.

Neurology
Crino, Peter B PB; Aronica, Eleonora E; Baltuch, Gordon G; Nathanson, Katherine L KL
Publication Date: 2010-05-25

Variant appearance in text: rs13337626
PubMed Link: 20498439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma.

Bmc Cancer
Chakraborty, Sanjukta S; Mohiyuddin, S M Azeem SM; Gopinath, K S KS; Kumar, Arun A
Publication Date: 2008-06-06

Variant appearance in text: TSC2: 2580T>C; F860F
PubMed Link: 18538015
Variant Present in the following documents:
  • Main text
  • 1471-2407-8-163.pdf
View BVdb publication page