TERT c.2105C>T ;(p.P702L)

Variant ID: 5-1279431-G-A

NM_198253.2(TERT):c.2105C>T;(p.P702L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: TERT: P702L
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: TERT: P702L
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing reveals potential mechanisms of drug resistance to FGFR3-TACC3 targeted therapy and subsequent drug selection: towards a personalized medicine.

Bmc Medical Genomics
Tong, Zhou Z; Yan, Cong C; Dong, Yu-An YA; Yao, Ming M; Zhang, Hangyu H; Liu, Lulu L; Zheng, Yi Y; Zhao, Peng P; Wang, Yimin Y; Fang, Weijia W; Zhang, Feifei F; Jiang, Weiqin W
Publication Date: 2020-09-21

Variant appearance in text: TERT: 2105C>T
PubMed Link: 32957974
Variant Present in the following documents:
  • 12920_2020_Article_794.pdf
View BVdb publication page



Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

The European Respiratory Journal
Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Kozlitina, Julia J; Glazer, Craig S CS; Aravena, Carlos C; Meyer, Keith K; Raghu, Ganesh G; Collard, Harold R HR; Garcia, Christine Kim CK
Publication Date: 2016-12

Variant appearance in text: TERT: Pro702Leu
PubMed Link: 27540018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Plos One
Diaz de Leon, Alberto A; Cronkhite, Jennifer T JT; Katzenstein, Anna-Luise A AL; Godwin, J David JD; Raghu, Ganesh G; Glazer, Craig S CS; Rosenblatt, Randall L RL; Girod, Carlos E CE; Garrity, Edward R ER; Xing, Chao C; Garcia, Christine Kim CK
Publication Date: 2010-05-19

Variant appearance in text: TERT: P702L
PubMed Link: 20502709
Variant Present in the following documents:
  • Main text
  • pone.0010680.pdf
  • pone.0010680.s003.pdf
View BVdb publication page



Telomere shortening in familial and sporadic pulmonary fibrosis.

American Journal Of Respiratory And Critical Care Medicine
Cronkhite, Jennifer T JT; Xing, Chao C; Raghu, Ganesh G; Chin, Kelly M KM; Torres, Fernando F; Rosenblatt, Randall L RL; Garcia, Christine Kim CK
Publication Date: 2008-10-01

Variant appearance in text: TERT: P702L
PubMed Link: 18635888
Variant Present in the following documents:
  • Main text
View BVdb publication page