TERT c.2602G>A ;(p.D868N)

Variant ID: 5-1266631-C-T

NM_198253.2(TERT):c.2602G>A;(p.D868N)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: TERT: D868N
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TERT: 2602G>A; Asp868Asn
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Structural, functional, and stability change predictions in human telomerase upon specific point mutations.

Scientific Reports
Kalathiya, U U; Padariya, M M; Baginski, M M
Publication Date: 2019-06-18

Variant appearance in text: TERT: D868N
PubMed Link: 31213647
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_45206.pdf
  • 41598_2019_45206_MOESM1_ESM.pdf
View BVdb publication page



Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.

Plos One
Donaires, Flávia S FS; Scatena, Natália F NF; Alves-Paiva, Raquel M RM; Podlevsky, Joshua D JD; Logeswaran, Dhenugen D; Santana, Barbara A BA; Teixeira, Andreza C AC; Chen, Julian J-L JJ; Calado, Rodrigo T RT; Martinelli, Ana L C ALC
Publication Date: 2017

Variant appearance in text: TERT: D868N
PubMed Link: 28813500
Variant Present in the following documents:
  • Main text
  • pone.0183287.pdf
View BVdb publication page



Telomerase mutations in smokers with severe emphysema.

The Journal Of Clinical Investigation
Stanley, Susan E SE; Chen, Julian J L JJ; Podlevsky, Joshua D JD; Alder, Jonathan K JK; Hansel, Nadia N NN; Mathias, Rasika A RA; Qi, Xiaodong X; Rafaels, Nicholas M NM; Wise, Robert A RA; Silverman, Edwin K EK; Barnes, Kathleen C KC; Armanios, Mary M
Publication Date: 2015-02

Variant appearance in text: TERT: Asp868Asn
PubMed Link: 25562321
Variant Present in the following documents:
  • Main text
View BVdb publication page



RNA/DNA hybrid binding affinity determines telomerase template-translocation efficiency.

The Embo Journal
Qi, Xiaodong X; Xie, Mingyi M; Brown, Andrew F AF; Bley, Christopher J CJ; Podlevsky, Joshua D JD; Chen, Julian J-L JJ
Publication Date: 2012-01-04

Variant appearance in text: TERT: D868N
PubMed Link: 21989387
Variant Present in the following documents:
  • Main text
View BVdb publication page



An anchor site-type defect in human telomerase that disrupts telomere length maintenance and cellular immortalization.

Molecular Biology Of The Cell
Moriarty, Tara J TJ; Ward, Ryan J RJ; Taboski, Michael A S MA; Autexier, Chantal C
Publication Date: 2005-07

Variant appearance in text: TERT: D868N
PubMed Link: 15857955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional multimerization of human telomerase requires an RNA interaction domain in the N terminus of the catalytic subunit.

Molecular And Cellular Biology
Moriarty, Tara J TJ; Huard, Sylvain S; Dupuis, Sophie S; Autexier, Chantal C
Publication Date: 2002-02

Variant appearance in text: TERT: D868N
PubMed Link: 11809815
Variant Present in the following documents:
  • Main text
View BVdb publication page