TERT c.2177C>T ;(p.T726M)

Variant ID: 5-1278865-G-A

NM_198253.2(TERT):c.2177C>T;(p.T726M)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Human Genomics
Yun, Jiwon J; Song, Hyojin H; Kim, Sung-Min SM; Kim, Soonok S; Kwon, Seok Ryun SR; Lee, Young Eun YE; Jeong, Dajeong D; Park, Jae Hyeon JH; Kwon, Sunghoon S; Yun, Hongseok H; Lee, Dong Soon DS
Publication Date: 2023-02-23

Variant appearance in text: TERT: 2177C>T; Thr726Met
PubMed Link: 36814285
Variant Present in the following documents:
  • 40246_2023_458_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Frontiers In Oncology
Fiesco-Roa, Moisés Ó MÓ; García-de Teresa, Benilde B; Leal-Anaya, Paula P; van 't Hek, Renée R; Wegman-Ostrosky, Talia T; Frías, Sara S; Rodríguez, Alfredo A
Publication Date: 2022

Variant appearance in text: TERT: T726M
PubMed Link: 36091172
Variant Present in the following documents:
  • Main text
  • fonc-12-949435.pdf
View BVdb publication page



Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Nature Communications
Li, Renda R; Yang, Zhenlin Z; Shao, Fei F; Cheng, Hong H; Wen, Yaru Y; Sun, Sijin S; Guo, Wei W; Li, Zitong Z; Zhang, Fan F; Xue, Liyan L; Bi, Nan N; Wang, Jie J; Sun, Yingli Y; Li, Yin Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; Shi, Susheng S; Gao, Yibo Y; He, Jie J
Publication Date: 2021-06-18

Variant appearance in text: TERT: 2177C>T; T726M; rs149566858
PubMed Link: 34145257
Variant Present in the following documents:
  • 41467_2021_24043_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment
Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH
Publication Date: 2021-01

Variant appearance in text: TERT: T726M
PubMed Link: 32810930
Variant Present in the following documents:
  • crt-2020-559-suppl3.pdf
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: TERT: 2177C>T; Thr726Met; rs149566858
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: TERT: T726M; rs149566858
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 7
  • pcbi.1007453.s002.xlsx, sheet 1
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s004.xlsx, sheet 6
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: TERT: 2177C>T; Thr726Met
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
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: T726M
PubMed Link: 28813500
Variant Present in the following documents:
  • Main text
  • pone.0183287.pdf
View BVdb publication page



Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Publication Date: 2016-12

Variant appearance in text: TERT: T726M
PubMed Link: 27640074
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TERT: 2177C>T; T726M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.

The Journal Of Biological Chemistry
Chu, Tsz Wai TW; MacNeil, Deanna Elise DE; Autexier, Chantal C
Publication Date: 2016-04-15

Variant appearance in text: TERT: T726M
PubMed Link: 26887940
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TERT: T726M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: Thr726Met
PubMed Link: 25562321
Variant Present in the following documents:
  • Main text
View BVdb publication page



Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Nucleic Acids Research
Zaug, Arthur J AJ; Crary, Sharon M SM; Jesse Fioravanti, Matthew M; Campbell, Kristina K; Cech, Thomas R TR
Publication Date: 2013-10

Variant appearance in text: TERT: T726M
PubMed Link: 23901009
Variant Present in the following documents:
  • Main text
  • supp_gkt653_nar-01604-r-2013-File007.pdf
  • gkt653.pdf
View BVdb publication page



Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia.

Leukemia
Aalbers, A M AM; Calado, R T RT; Young, N S NS; Zwaan, C M CM; Wu, C C; Kajigaya, S S; Coenen, E A EA; Baruchel, A A; Geleijns, K K; de Haas, V V; Kaspers, G J L GJ; Kuijpers, T W TW; Reinhardt, D D; Trka, J J; Zimmermann, M M; Pieters, R R; van der Velden, V H J VH; van den Heuvel-Eibrink, M M MM
Publication Date: 2013-08

Variant appearance in text: TERT: T726M
PubMed Link: 23426163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Medical genetics and epigenetics of telomerase.

Journal Of Cellular And Molecular Medicine
Koziel, Jillian E JE; Fox, Melanie J MJ; Steding, Catherine E CE; Sprouse, Alyssa A AA; Herbert, Brittney-Shea BS
Publication Date: 2011-03

Variant appearance in text: TERT: T726M
PubMed Link: 21323862
Variant Present in the following documents:
  • Main text
  • jcmm0015-0457.pdf
View BVdb publication page