TSC2 c.223G>A ;(p.E75K)

Variant ID: 16-2100485-G-A

NM_000548.3(TSC2):c.223G>A;(p.E75K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences
Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW
Publication Date: 2023-03-08

Variant appearance in text: TSC2: 223G>A; Glu75Lys
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TSC2: 223G>A; E75K
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Annals Of Neurology
Jia, Xiaoming X; Madireddy, Lohith L; Caillier, Stacy S; Santaniello, Adam A; Esposito, Federica F; Comi, Giancarlo G; Stuve, Olaf O; Zhou, Yuan Y; Taylor, Bruce B; Kilpatrick, Trevor T; Martinelli-Boneschi, Filippo F; Cree, Bruce A C BAC; Oksenberg, Jorge R JR; Hauser, Stephen L SL; Baranzini, Sergio E SE
Publication Date: 2018-07

Variant appearance in text: TSC2: 223G>A; E75K
PubMed Link: 29908077
Variant Present in the following documents:
  • Main text
  • ANA-84-51.pdf
  • ANA-84-51-s002.pdf
View BVdb publication page



Phase Ib study evaluating safety and clinical activity of the anti-HER3 antibody lumretuzumab combined with the anti-HER2 antibody pertuzumab and paclitaxel in HER3-positive, HER2-low metastatic breast cancer.

Investigational New Drugs
Schneeweiss, Andreas A; Park-Simon, Tjoung-Won TW; Albanell, Joan J; Lassen, Ulrik U; Cortés, Javier J; Dieras, Veronique V; May, Marcus M; Schindler, Christoph C; Marmé, Frederik F; Cejalvo, Juan Miguel JM; Martinez-Garcia, Maria M; Gonzalez, Iria I; Lopez-Martin, Jose J; Welt, Anja A; Levy, Christelle C; Joly, Florence F; Michielin, Francesca F; Jacob, Wolfgang W; Adessi, Céline C; Moisan, Annie A; Meneses-Lorente, Georgina G; Racek, Tomas T; James, Ian I; Ceppi, Maurizio M; Hasmann, Max M; Weisser, Martin M; Cervantes, Andrés A
Publication Date: 2018-10

Variant appearance in text: TSC2: E75K
PubMed Link: 29349598
Variant Present in the following documents:
  • 10637_2018_562_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Combination treatment of RAD001 and BEZ235 exhibits synergistic antitumor activity via down-regulation of p-4E-BP1/Mcl-1 in small cell lung cancer.

Oncotarget
Hong, Bo B; Wang, Huogang H; Deng, Ke K; Wang, Wei W; Dai, Haiming H; Yan Lui, Vivian Wai VW; Lin, Wenchu W
Publication Date: 2017-12-05

Variant appearance in text: TSC2: E75K
PubMed Link: 29290965
Variant Present in the following documents:
  • Main text
  • oncotarget-08-106486.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: 223G>A; Glu75Lys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Analysis of renal cancer cell lines from two major resources enables genomics-guided cell line selection.

Nature Communications
Sinha, Rileen R; Winer, Andrew G AG; Chevinsky, Michael M; Jakubowski, Christopher C; Chen, Ying-Bei YB; Dong, Yiyu Y; Tickoo, Satish K SK; Reuter, Victor E VE; Russo, Paul P; Coleman, Jonathan A JA; Sander, Chris C; Hsieh, James J JJ; Hakimi, A Ari AA
Publication Date: 2017-05-10

Variant appearance in text: TSC2: E75K
PubMed Link: 28489074
Variant Present in the following documents:
  • ncomms15165.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TSC2: 223G>A; E75K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page