TERT c.2004G>C ;(p.E668D)

Variant ID: 5-1279532-C-G

NM_198253.2(TERT):c.2004G>C;(p.E668D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TERT: 2004G>C; Glu668Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Remodeling of Mitochondrial Plasticity: The Key Switch from NAFLD/NASH to HCC.

International Journal Of Molecular Sciences
Longo, Miriam M; Paolini, Erika E; Meroni, Marica M; Dongiovanni, Paola P
Publication Date: 2021-04-17

Variant appearance in text: TERT: Glu668Asp
PubMed Link: 33920670
Variant Present in the following documents:
  • Main text
View BVdb publication page



Telomeres, NAFLD and Chronic Liver Disease.

International Journal Of Molecular Sciences
Donati, Benedetta B; Valenti, Luca L
Publication Date: 2016-03-15

Variant appearance in text: TERT: Glu668Asp
PubMed Link: 26999107
Variant Present in the following documents:
  • Main text
  • ijms-17-00383.pdf
View BVdb publication page