TERT c.2329G>T ;(p.V777L)

Variant ID: 5-1272353-C-A

NM_198253.2(TERT):c.2329G>T;(p.V777L)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.

Scientific Reports
Munari, Fernanda Franco FF; Dos Santos, Wellington W; Evangelista, Adriane Feijó AF; Carvalho, Ana Carolina AC; Pastrez, Paula Aguiar PA; Bugatti, Diego D; Wohnrath, Durval R DR; Scapulatempo-Neto, Cristovam C; Guimarães, Denise Peixoto DP; Longatto-Filho, Adhemar A; Reis, Rui Manuel RM
Publication Date: 2021-10-18

Variant appearance in text: TERT: Val777Leu
PubMed Link: 34663841
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_208.pdf
View BVdb publication page



Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies.

Frontiers In Oncology
Scatena, Cristian C; Murtas, Daniela D; Tomei, Sara S
Publication Date: 2021

Variant appearance in text: TERT: V777L
PubMed Link: 34123788
Variant Present in the following documents:
  • Main text
  • fonc-11-635488.pdf
View BVdb publication page



High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Human Genetics
Norris, Kevin K; Walne, Amanda J AJ; Ponsford, Mark J MJ; Cleal, Kez K; Grimstead, Julia W JW; Ellison, Alicia A; Alnajar, Jenna J; Dokal, Inderjeet I; Vulliamy, Tom T; Baird, Duncan M DM
Publication Date: 2021-06

Variant appearance in text: TERT: 2329G>T; Val777Leu
PubMed Link: 33709208
Variant Present in the following documents:
  • 439_2021_2257_MOESM1_ESM.pdf
View BVdb publication page



A structurally conserved human and Tetrahymena telomerase catalytic core.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Yaqiang Y; Gallagher-Jones, Marcus M; Sušac, Lukas L; Song, He H; Feigon, Juli J
Publication Date: 2020-12-08

Variant appearance in text: TERT: V777L
PubMed Link: 33229538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine
Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ
Publication Date: 2019-08-16

Variant appearance in text: TERT: Val777Leu
PubMed Link: 31426295
Variant Present in the following documents:
  • Main text
  • jcm-08-01232.pdf
View BVdb publication page



Biotinylated amplicon sequencing: A method for preserving DNA samples of limited quantity.

Practical Laboratory Medicine
Cravero, Karen K; Medford, Arielle A; Pallavajjala, Aparna A; Canzoniero, Jenna J; Hunter, Natasha N; Chu, David D; Cochran, Rory L RL; Waters, Ian I; Christenson, Eric S ES; Kyker-Snowman, Kelly K; Button, Berry B; Cole, Alex J AJ; Park, Ben Ho BH
Publication Date: 2018-11

Variant appearance in text: TERT: V777L
PubMed Link: 30140723
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Molecular Oncology
Geyer, Felipe C FC; Burke, Kathleen A KA; Piscuoglio, Salvatore S; Ng, Charlotte K Y CKY; Papanastasiou, Anastasios D AD; Marchiò, Caterina C; Selenica, Pier P; Edelweiss, Marcia M; Murray, Melissa P MP; Brogi, Edi E; Soslow, Robert A RA; Rubin, Brian P BP; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2017-08

Variant appearance in text: TERT: Val777Leu
PubMed Link: 28267263
Variant Present in the following documents:
  • MOL2-11-913-s007.pdf
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: V777L
PubMed Link: 26887940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Blood
Collopy, Laura C LC; Walne, Amanda J AJ; Cardoso, Shirleny S; de la Fuente, Josu J; Mohamed, Mahfuzah M; Toriello, Helga H; Tamary, Hannah H; Ling, Adam J Y V AJ; Lloyd, Timothy T; Kassam, Rebecca R; Tummala, Hemanth H; Vulliamy, Thomas J TJ; Dokal, Inderjeet I
Publication Date: 2015-07-09

Variant appearance in text: TERT: Val777Leu
PubMed Link: 26024875
Variant Present in the following documents:
  • Main text
View BVdb publication page