TSC2 c.274G>T ;(p.E92*)

Variant ID: 16-2103391-G-T

NM_000548.3(TSC2):c.274G>T;(p.E92*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: TSC2: E92*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Plk2 Loss Commonly Occurs in Colorectal Carcinomas but not Adenomas: Relationship to mTOR Signaling.

Neoplasia (New York, N.Y.)
Matthew, Elizabeth M EM; Yang, Zhaohai Z; Peri, Suraj S; Andrake, Mark M; Dunbrack, Roland R; Ross, Eric E; El-Deiry, Wafik S WS
Publication Date: 2018-03

Variant appearance in text: TSC2: 274G>T
PubMed Link: 29448085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Plos Genetics
Giannikou, Krinio K; Malinowska, Izabela A IA; Pugh, Trevor J TJ; Yan, Rachel R; Tseng, Yuen-Yi YY; Oh, Coyin C; Kim, Jaegil J; Tyburczy, Magdalena E ME; Chekaluk, Yvonne Y; Liu, Yang Y; Alesi, Nicola N; Finlay, Geraldine A GA; Wu, Chin-Lee CL; Signoretti, Sabina S; Meyerson, Matthew M; Getz, Gad G; Boehm, Jesse S JS; Henske, Elizabeth P EP; Kwiatkowski, David J DJ
Publication Date: 2016-08

Variant appearance in text: TSC2: 274G>T
PubMed Link: 27494029
Variant Present in the following documents:
  • Main text
  • pgen.1006242.pdf
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: TSC2: E92X
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page