TERT c.2628C>A ;(p.H876Q)

Variant ID: 5-1266605-G-T

NM_198253.2(TERT):c.2628C>A;(p.H876Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.

Blood Advances
Niaz, Aram A; Truong, Jia J; Manoleras, Annabel A; Fox, Lucy C LC; Blombery, Piers P; Vasireddy, Raja S RS; Pickett, Hilda A HA; Curtin, Julie A JA; Barbaro, Pasquale M PM; Rodgers, Jonathan J; Roy, John J; Riley, Lisa G LG; Holien, Jessica K JK; Cohen, Scott B SB; Bryan, Tracy M TM
Publication Date: 2022-06-28

Variant appearance in text: TERT: His876Gln
PubMed Link: 35477117
Variant Present in the following documents:
  • advancesADV2022007029-suppl1.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: TERT: H876Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: TERT: H876Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: H876Q
PubMed Link: 21323862
Variant Present in the following documents:
  • Main text
  • jcmm0015-0457.pdf
View BVdb publication page



TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Blood
Du, Hong-Yan HY; Pumbo, Elena E; Ivanovich, Jennifer J; An, Ping P; Maziarz, Richard T RT; Reiss, Ulrike M UM; Chirnomas, Deborah D; Shimamura, Akiko A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Goyal, Rakesh K RK; Goldman, Frederick F; Wilson, David B DB; Mason, Philip J PJ; Bessler, Monica M
Publication Date: 2009-01-08

Variant appearance in text: TERT: H876Q
PubMed Link: 18931339
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

Blood
Du, Hong-Yan HY; Pumbo, Elena E; Manley, Peter P; Field, Joshua J JJ; Bayliss, Susan J SJ; Wilson, David B DB; Mason, Philip J PJ; Bessler, Monica M
Publication Date: 2008-02-01

Variant appearance in text: TERT: H876Q
PubMed Link: 18042801
Variant Present in the following documents:
  • Main text
View BVdb publication page