TSC2 c.4952A>G ;(p.N1651S)

Variant ID: 16-2136835-A-G

NM_000548.3(TSC2):c.4952A>G;(p.N1651S)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


bMSAF is a prognostic predictor for advanced hepatocellular carcinoma patients treated with immune checkpoint inhibitor camrelizumab and anti-angiogenic agent apatinib combination therapy.

Clinical And Translational Medicine
Xu, Gehan G; Cui, Liang L; Li, Jin J; Wang, Quanren Q; Li, Pansong P; Xia, Xuefeng X; Yi, Xin X; Guan, Quanlin Q; Xu, Jianming J
Publication Date: 2022-10

Variant appearance in text: TSC2: 4952A>G; N1651S
PubMed Link: 36245284
Variant Present in the following documents:
  • CTM2-12-e1086-s010.xlsx, sheet 7
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: 4952A>G; N1651S
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
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: N1651S
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: TSC2: 4952A>G; Asn1651Ser
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.

Cell Reports
Di Nardo, Alessia A; Lenoël, Isadora I; Winden, Kellen D KD; Rühmkorf, Alina A; Modi, Meera E ME; Barrett, Lee L; Ercan-Herbst, Ebru E; Venugopal, Pooja P; Behne, Robert R; Lopes, Carla A M CAM; Kleiman, Robin J RJ; Bettencourt-Dias, Mónica M; Sahin, Mustafa M
Publication Date: 2020-06-23

Variant appearance in text: TSC2: 4952A>G; Asn1651Ser
PubMed Link: 32579942
Variant Present in the following documents:
  • NIHMS1607413-supplement-3.xlsx, sheet 1
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: 4952A>G
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
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: 4952A>G; N1651S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

International Journal Of Biological Sciences
Chou, Wen-Chi WC; Lin, Po-Han PH; Yeh, Yi-Chen YC; Shyr, Yi-Ming YM; Fang, Wen-Liang WL; Wang, Shin-E SE; Liu, Chun-Yu CY; Chang, Peter Mu-Hsin PM; Chen, Ming-Han MH; Hung, Yi-Ping YP; Li, Chung-Pin CP; Chao, Yee Y; Chen, Ming-Huang MH
Publication Date: 2016

Variant appearance in text: TSC2: N1651S
PubMed Link: 27994516
Variant Present in the following documents:
  • ijbsv12p1523s1.xls, sheet 1
View BVdb publication page



TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication.

Gut
Ho, Daniel W H DWH; Chan, Lo K LK; Chiu, Yung T YT; Xu, Iris M J IMJ; Poon, Ronnie T P RTP; Cheung, Tan T TT; Tang, Chung N CN; Tang, Victor W L VWL; Lo, Irene L O ILO; Lam, Polly W Y PWY; Yau, Derek T W DTW; Li, Miao X MX; Wong, Chun M CM; Ng, Irene O L IOL
Publication Date: 2017-08

Variant appearance in text: TSC2: N1651S
PubMed Link: 27974549
Variant Present in the following documents:
  • Main text
  • gutjnl-2016-312734.pdf
View BVdb publication page



mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency.

Oncotarget
Li, Hongwu H; Jin, Fuquan F; Jiang, Keguo K; Ji, Shuang S; Wang, Li L; Ni, Zhaofei Z; Chen, Xianguo X; Hu, Zhongdong Z; Zhang, Hongbing H; Liu, Yehai Y; Qin, Yide Y; Zha, Xiaojun X
Publication Date: 2016-05-10

Variant appearance in text: TSC2: N1651S
PubMed Link: 27078846
Variant Present in the following documents:
  • Main text
  • oncotarget-07-28435.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: N1651S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: N1651S
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Science (New York, N.Y.)
Jiao, Yuchen Y; Shi, Chanjuan C; Edil, Barish H BH; de Wilde, Roeland F RF; Klimstra, David S DS; Maitra, Anirban A; Schulick, Richard D RD; Tang, Laura H LH; Wolfgang, Christopher L CL; Choti, Michael A MA; Velculescu, Victor E VE; Diaz, Luis A LA; Vogelstein, Bert B; Kinzler, Kenneth W KW; Hruban, Ralph H RH; Papadopoulos, Nickolas N
Publication Date: 2011-03-04

Variant appearance in text: TSC2: 4952A>G; N1651S
PubMed Link: 21252315
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phospholipase D1 is an effector of Rheb in the mTOR pathway.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Y Y; Fang, Y Y; Yoon, M-S MS; Zhang, C C; Roccio, M M; Zwartkruis, F J FJ; Armstrong, M M; Brown, H A HA; Chen, J J
Publication Date: 2008-06-17

Variant appearance in text: TSC2: N1651S
PubMed Link: 18550814
Variant Present in the following documents:
  • Main text
View BVdb publication page



The TSC1-TSC2 complex is required for proper activation of mTOR complex 2.

Molecular And Cellular Biology
Huang, Jingxiang J; Dibble, Christian C CC; Matsuzaki, Mika M; Manning, Brendan D BD
Publication Date: 2008-06

Variant appearance in text: TSC2: N1651S
PubMed Link: 18411301
Variant Present in the following documents:
  • Main text
View BVdb publication page