TSC2 c.1258G>T ;(p.E420*)

Variant ID: 16-2112498-G-T

NM_000548.3(TSC2):c.1258G>T;(p.E420*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Orphanet Journal Of Rare Diseases
Luo, Cong C; Zhang, Ye Y; Zhang, Yu-Shi YS; Zhang, Ming-Xin MX; Ning, Jun J; Chen, Min-Feng MF; Li, Yuan Y; Qi, Lin L; Zu, Xiong-Bing XB; Li, Yang-Le YL; Cai, Yi Y
Publication Date: 2022-07-23

Variant appearance in text: TSC2: 1258G>T
PubMed Link: 35870981
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2443.pdf
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: TSC2: 1258G>T; E420*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
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: 1258G>T; E420*
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



Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids.

Nature Communications
Alcala, N N; Leblay, N N; Gabriel, A A G AAG; Mangiante, L L; Hervas, D D; Giffon, T T; Sertier, A S AS; Ferrari, A A; Derks, J J; Ghantous, A A; Delhomme, T M TM; Chabrier, A A; Cuenin, C C; Abedi-Ardekani, B B; Boland, A A; Olaso, R R; Meyer, V V; Altmuller, J J; Le Calvez-Kelm, F F; Durand, G G; Voegele, C C; Boyault, S S; Moonen, L L; Lemaitre, N N; Lorimier, P P; Toffart, A C AC; Soltermann, A A; Clement, J H JH; Saenger, J J; Field, J K JK; Brevet, M M; Blanc-Fournier, C C; Galateau-Salle, F F; Le Stang, N N; Russell, P A PA; Wright, G G; Sozzi, G G; Pastorino, U U; Lacomme, S S; Vignaud, J M JM; Hofman, V V; Hofman, P P; Brustugun, O T OT; Lund-Iversen, M M; Thomas de Montpreville, V V; Muscarella, L A LA; Graziano, P P; Popper, H H; Stojsic, J J; Deleuze, J F JF; Herceg, Z Z; Viari, A A; Nuernberg, P P; Pelosi, G G; Dingemans, A M C AMC; Milione, M M; Roz, L L; Brcic, L L; Volante, M M; Papotti, M G MG; Caux, C C; Sandoval, J J; Hernandez-Vargas, H H; Brambilla, E E; Speel, E J M EJM; Girard, N N; Lantuejoul, S S; McKay, J D JD; Foll, M M; Fernandez-Cuesta, L L
Publication Date: 2019-08-20

Variant appearance in text: PPP1R160: 1258G>T
PubMed Link: 31431620
Variant Present in the following documents:
  • 41467_2019_11276_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page